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1.
Sci Rep ; 12(1): 12549, 2022 07 22.
Artigo em Inglês | MEDLINE | ID: mdl-35869091

RESUMO

Nowadays, we are facing the worldwide pandemic caused by COVID-19. The complexity and momentum of monitoring patients infected with this virus calls for the usage of agile and scalable data structure methodologies. OpenEHR is a healthcare standard that is attracting a lot of attention in recent years due to its comprehensive and robust architecture. The importance of an open, standardized and adaptable approach to clinical data lies in extracting value to generate useful knowledge that really can help healthcare professionals make an assertive decision. This importance is even more accentuated when facing a pandemic context. Thus, in this study, a system for tracking symptoms and health conditions of suspected or confirmed SARS-CoV-2 patients from a Portuguese hospital was developed using openEHR. All data on the evolutionary status of patients in home care as well as the results of their COVID-19 test were used to train different ML algorithms, with the aim of developing a predictive model capable of identifying COVID-19 infections according to the severity of symptoms identified by patients. The CRISP-DM methodology was used to conduct this research. The results obtained were promising, with the best model achieving an accuracy of 96.25%, a precision of 99.91%, a sensitivity of 92.58%, a specificity of 99.92%, and an AUC of 0.963, using the Decision Tree algorithm and the Split Validation method. Hence, in the future, after further testing, the predictive model could be implemented in clinical decision support systems.


Assuntos
COVID-19 , Artefatos , COVID-19/diagnóstico , Teste para COVID-19 , Humanos , Pandemias , SARS-CoV-2
2.
Health Technol (Berl) ; 11(5): 1109-1118, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33968598

RESUMO

The COVID-19 pandemic had put pressure on various national healthcare systems, due to the lack of health professionals and exhaustion of those avaliable, as well as lack of interoperability and inability to restructure their IT systems. Therefore, the restructuring of institutions at all levels is essential, especially at the level of their information systems. Furthermore, the COVID-19 pandemic had arrived in Portugal at March 2020, with a breakout on the northern region. In order to quickly respond to the pandemic, the CHUP healthcare institution, known as a research center, has embraced the challenge of developing and integrating a new approach based on the openEHR standard to interoperate with the institution's existing information and its systems. An openEHR clinical modelling methodology was outlined and adopted, followed by a survey of daily clinical and technical requirements. With the arrival of the virus in Portugal, the CHUP institution has undergone through constant changes in their working methodologies as well as their openEHR modelling. As a result, an openEHR patient care workflow for COVID-19 was developed.

3.
Am J Med Genet A ; 182(12): 3007-3013, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32990340

RESUMO

Chediak-Higashi disease is a rare disease caused by bi-allelic mutations in the lysosomal trafficking regulator gene, LYST. Individuals typically present in early childhood with partial oculocutaneous albinism, a bleeding diathesis, recurrent infections secondary to immune dysfunction, and risk of developing hemophagocytic lymphohistiocytosis (HLH). Without intervention, mortality is high in the first decade of life. However, some individuals with milder phenotypes have attenuated hematologic and immunologic presentations, and lower risk of HLH. Both classic and milder phenotypes develop progressive neurodegeneration in early adulthood. Here we present a remarkable patient diagnosed with Chediak-Higashi disease at age 67, many decades after the diagnosis is usually established. Diagnosis was suspected by observing the pathognomonic granules within leukocytes, and confirmed by identification of bi-allelic mutations in LYST, reduced LYST mRNA expression, enlarged lysosomes within fibroblasts, and decreased NK cell lytic activity. This case further expands the phenotype of Chediak-Higashi disease and highlights the need for increased awareness. Individuals with milder phenotypes may escape early diagnosis, but identification is important for close monitoring of potential complications, and to further our understanding of the function of LYST.


Assuntos
Síndrome de Chediak-Higashi/diagnóstico , Mutação , Fenótipo , Proteínas de Transporte Vesicular/genética , Idoso , Alelos , Síndrome de Chediak-Higashi/genética , Feminino , Humanos
4.
Procedia Comput Sci ; 177: 522-527, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-35721473

RESUMO

The COVID-19 pandemic has collapsed several national health systems, due to the lack of healthcare professionals and exhaustion of those employed, as well as the lack of interoperability and capacity to restructure their informatic systems. Therefore, the restructuring of institutions at all levels is essential, mainly at the level of their Information Systems. When the COVID-19 pandemic had spread to Portugal in March 2020, with a breakout on the northern region, the Centro Hospitalar Universitário do Porto (CHUP) healthcare institution had felt the need to develop and integrate a new approach based on the openEHR standard to interoperate with the institution's existing information systems, with the aim of responding quickly to the pandemic's evolution.

5.
Acta Med Port ; 27(2): 271-3, 2014.
Artigo em Português | MEDLINE | ID: mdl-24813499

RESUMO

Hepatic lesions represent a common finding in clinical practice. Bile ducts hamartomas, also known as Von Meyenburg complex, are benign hepatic malformations composed of small dilated cystic bile ducts lined by fibrous stroma. They represent a rare and asymptomatic clinic-pathological entity. Imagiological findings are variable, and may present as multiple small scattered lesions, or rarely as a single nodule. These findings may resemble secondary lesions and, although benign, there are cases of progression to colangiocarcinoma. Thus it is important to include this complex in the differential diagnoses of focal hepatic lesions, being necessary a detailed investigation for their differentiation. This case represents an atypical presentation of a rare and not frequently considered entity in clinical practice.


As lesões hepáticas são achados comuns na prática clínica. Os hamartomas dos ductos biliares, vulgarmente conhecidos por complexo de Von Meyenburg, são malformações hepáticas benignas que se apresentam histologicamente como pequenas dilatações quísticas dos ductos biliares, revestidas por tecido fibroso. Representam uma entidade clinico-patológica rara, tipicamente assintomática e sem alterações nos parâmetros hepáticos. O aspeto imagiológico é variável, podendo apresentar-se como múltiplas pequenas lesões dispersas pelo fígado, ou mais raramente como nódulo isolado. Os achados imagiológicos podem mimetizar lesões secundárias e, apesar da aparente benignidade da patologia, estão descritos casos de progressão para colangiocarcinoma. É, por isso, importante incluir este complexo no diagnóstico diferencial das lesões hepáticas focais, sendo fundamental uma investigação minuciosa para a sua diferenciação. Os autores pretendem com este caso dar a conhecer uma apresentação atípica de uma entidade rara e pouco ponderada na prática clínica.


Assuntos
Doenças dos Ductos Biliares/diagnóstico , Hamartoma/diagnóstico , Neoplasias Hepáticas/secundário , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade
6.
Rev Port Cir Cardiotorac Vasc ; 15(4): 201-4, 2008.
Artigo em Português | MEDLINE | ID: mdl-19305879

RESUMO

Right heart thrombi are an uncommon finding in pulmonary embolism. The authors report a case of pulmonary embolism in an elderly male, describing its atypical presentation as well as the workup and therapy, followed by a brief thematic review.


Assuntos
Cardiopatias , Trombose , Idoso , Cardiopatias/diagnóstico , Cardiopatias/cirurgia , Humanos , Masculino , Embolia Pulmonar/complicações , Trombose/complicações , Trombose/diagnóstico , Trombose/cirurgia
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