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Total 146 results found since Jan 2013.

Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
CONCLUSIONS: Hemizygosity for the GLA Leu113 variant allele is associated with a late-onset form of FD, invariably presenting with severe cardiac involvement. Clinically relevant cerebrovascular and kidney involvement may also occur in some patients but the pathogenic relationship between the incomplete α-galactosidase deficiency and the risks of stroke and of chronic kidney disease is not straightforward. The observation that the Leu113 allele segregated within the same GLA microsatellite haplotype in both the Portuguese and Italian families suggests its inheritance from a common ancestor. PMID: 31200018 [PubMed - a...
Source: European Journal of Medical Genetics - June 10, 2019 Category: Genetics & Stem Cells Authors: Oliveira JP, Nowak A, Barbey F, Torres M, Nunes JP, Teixeira-E-Costa F, Carvalho F, Sampaio S, Tavares I, Pereira O, Soares AL, Carmona C, Cardoso MT, Jurca-Simina IE, Spada M, Ferreira S, Germain DP Tags: Eur J Med Genet Source Type: research

Short- and medium-term prognosis of Takotsubo syndrome in a Portuguese population
ConclusionTTS has a good short- and medium-term prognosis. However, the rate of in-hospital complications is high and should not be overlooked. Dyspnea at presentation, CKD, CAD and lower LVEF on admission were independent predictors of in-hospital complications. Prolonged QTc on admission was associated with complications in follow-up.ResumoIntroduçãoA síndrome de Takotsubo (TTS) caracteriza-se por disfunção sistólica ventricular esquerda transitória.ObjetivoCaracterizar uma população portuguesa com TTS e determinar o seu prognóstico a curto e médio prazo.MétodosEstudo multicêntrico português com inclusão r...
Source: Revista Portuguesa de Cardiologia - July 6, 2019 Category: Cardiology Source Type: research

Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype
ConclusionA founder effect of FD due to p.F113L mutation was documented by genealogy and genetics in a Portuguese region. In this late-onset phenotype, although cardiac manifestations carry the highest prognostic impact, extracardiac involvement is common.
Source: Molecular Genetics and Metabolism - July 25, 2019 Category: Genetics & Stem Cells Source Type: research

3D-Printed Flexible Mesh Eyed for Knee, Ankle Braces
While 3D-printing has allowed for the fabrication of materials that can customize certain types of prosthetics and other devices for medical use, typically they are made out of rigid materials, which limits the mobility of a patient using them. Now researchers at MIT have 3D-printed mesh materials that can offer more customization and flexibility for medical devices and braces that support parts of the body that need to flex, such as muscles and tendons. MIT engineers have 3D-printed stretchy mesh, with customized patterns designed to be flexible yet strong, for use in ankle and knee braces. (Image source: Felice Frankel...
Source: MDDI - July 24, 2019 Category: Medical Devices Tags: Design News Source Type: news

Sociodemographic disparities in hypertension prevalence: Results from the first Portuguese National Health Examination Survey
ConclusionsA large majority of the adult Portuguese population are likely to reach blood pressure levels defined as hypertension in adulthood. Significant differences in hypertension prevalence were found according to gender, age and socioeconomic status, which highlights the importance of population strategies in public health policies.ResumoIntroduçãoAs doenças cardiovasculares são uma importante causa de morte e incapacidade, sendo que a hipertensão arterial (HTA) é responsável por, pelo menos, 45% da mortalidade por doença cardíaca e 51% por acidente vascular cerebral. Este estudo pretende estimar e descrever ...
Source: Revista Portuguesa de Cardiologia - December 1, 2019 Category: Cardiology Source Type: research

Secondary transport: Still an important obstacle to the performance of the coronary and stroke fast-track systems in Portugal?
Publication date: Available online 18 December 2019Source: Revista Portuguesa de Cardiologia (English Edition)Author(s): Hélder Pereira
Source: Revista Portuguesa de Cardiologia - December 18, 2019 Category: Cardiology Source Type: research

Intrathecal Baclofen Infusion Pumps in the Treatment of Spasticity: A Retrospective Cohort Study in a Portuguese Centre.
CONCLUSION: Intrathecal baclofen infusion pumps are safe and effective in the treatment of spasticity. Infusion pumps provide a high level of satisfaction regarding treatment and quality of life. PMID: 31851884 [PubMed - in process]
Source: Acta Medica Portuguesa - December 19, 2019 Category: General Medicine Tags: Acta Med Port Source Type: research

Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation
ConclusionThis study improves the knowledge on natural history of late-onset variants of FD, carrying major impact on clinical decisions and guidelines.
Source: Molecular Genetics and Metabolism Reports - February 15, 2020 Category: Genetics & Stem Cells Source Type: research

Organic Psychosis Causing Secondary Schizophrenia in One-Fourth of a Cohort of 200 Patients Previously Diagnosed With Primary Schizophrenia.
Conclusions: The most striking feature of this study was the high prevalence of incorrect diagnosis of schizophrenia, with patients not receiving the minimum correct assessment before that diagnosis, resulting in negative consequences. Caution is recommended when diagnosing severely psychotic patients independent of their acute or chronic condition. PMID: 32220147 [PubMed - as supplied by publisher]
Source: The Primary Care Companion for CNS Disorders - March 30, 2020 Category: Primary Care Tags: Prim Care Companion CNS Disord Source Type: research

The Role of Cardiovascular Risk Assessment in Preventive Medicine: A Perspective from Portugal Primary Health-Care Cardiovascular Risk Assessment.
Authors: Santos P Abstract The cardiovascular diseases are the leading cause of death in the world, especially because of myocardial infarction and stroke. Their beginning, however, starts many years earlier with the atherosclerotic process due to the cardiovascular risk factors, with different weights in the global risk. Our aim is to review the utilization of risk estimators in primary health care, through a comprehensive review of the literature and official national and international health data (OECD and WHO). The risk estimators aim to integrate the partial information of each factor in a global calculation a...
Source: Journal of Environmental and Public Health - May 15, 2020 Category: Environmental Health Tags: J Environ Public Health Source Type: research

Effect of spectral overlays on visual parameters and reading ability: an integrative review
Conclusion: the effectiveness of overlays in improving reading quality is consistently demonstrated in the literature. The reviewed articles showed that the overlays ’ effect is more expressive when the visual stress is associated with conditions that present sensory alterations and cortical hyperactivity.RESUMO Objetivo: oferecer uma revis ão integrativa dos artigos indexados publicados de 2009 a 2019 sobre o efeito das lâminas espectrais (overlays) em parâmetros visuais e na habilidade de leitura. Métodos: utilizou-se a pesquisa de palavras-chave em sete bancos de dados. Foram excluídos registros duplicados, revis...
Source: Revista CEFAC - June 4, 2020 Category: Speech-Language Pathology Source Type: research

Increased short-term risk of cardiovascular events in inflammatory rheumatic diseases: results from a population-based cohort
AbstractCardiovascular diseases represent the first cause of death globally. Inflammatory rheumatic disease (IRMD) patients, due to their lifelong inflammatory status, are at increased risk of developing premature cardiovascular disease. We aimed to assess the risk for cardiovascular events (CVE) in a population-based study. We followed 10,153 adults from the EpiDoC Cohort, a large Portuguese population-based prospective study (2011 –2016). IRMD patients were identified at baseline and followed during 5 years. CVE were defined as a composite of self-reported myocardial infarction or angina pectoris, arrhythmias, valvula...
Source: Rheumatology International - January 3, 2021 Category: Rheumatology Source Type: research

ECMO in Neonates with Congenital Diaphragmatic Hernia: The Experience of a Portuguese ECMO Referral Center.
CONCLUSION: Survival rate was higher than reported in 2017 Extracorporeal Life Support Organization report (64% versus 50%). Mechanical and hemorrhagic complications were very frequent. PMID: 33496251 [PubMed - in process]
Source: Acta Medica Portuguesa - January 28, 2021 Category: General Medicine Tags: Acta Med Port Source Type: research

Revascularization Strategies in Patients with Acute Myocardial Infarction and Cardiogenic Shock: Results from the Portuguese Registry on Acute Coronary Syndromes
Conclusions: Among patients with MI, CS, and MVD included in the ProACS, there was no significant difference between complete and incomplete revascularization during the index hospitalization regarding the occurrence of in-hospital death or MI. (Arq Bras Cardiol. 2021; 116(5):867-876)
Source: Arquivos Brasileiros de Cardiologia - May 17, 2021 Category: Cardiology Source Type: research

Analysis of Revascularization Strategies in Patients with Acute Myocardial Infarction and Cardiogenic Shock - Results from the Portuguese Registry on Acute Coronary Syndromes
Conclusions: Among patients with MI, CS, and MVD included in the ProACS, there was no significant difference between complete and incomplete revascularization during the index hospitalization regarding the occurrence of in-hospital death or MI. (Arq Bras Cardiol. 2021; 116(5):867-876)
Source: Arquivos Brasileiros de Cardiologia - May 17, 2021 Category: Cardiology Source Type: research