Acta Medica Port
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Epileptic encephalopathies of childhood are characterized by early seizure-onset and adverse neurological outcomes. The development of new genetic techniques has allowed an exponential identification of the genes that are involved. Over the last years, we have observed a revolution in the diagnostic paradigm. However, there are no international guidelines regarding the diagnosis of genetic epileptic encephalopathies. We aim to discuss the current knowledge about the genetic architecture of epileptic encephalopathies of childhood. ⋯ The revolution of the genetic knowledge about epileptic encephalopathies of childhood has led to a complex diagnostic approach. This new paradigm poses significant implications in genetic counselling, treatment and prognosis.
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Observational Study
Contribution of Different Patient Information Sources to Create the Best Possible Medication History.
Obtaining the best possible medication history is the crucial step in medication reconciliation. Our aim was to evaluate the potential contributions of the main data sources available - patient/caregiver, hospital medical records, and shared electronic health records - to obtain an accurate 'best possible medication history'. ⋯ Shared electronic health records should be the preferred source of information to supplement the patient or caregiver interview in order to increase the accuracy of best possible medication history of the patient, particularly if collected within the prior six months.
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Hepatitis E virus genotype 3 infections are normally asymptomatic in immunocompetent individuals. Symptomatic cases of acute icteric hepatitis E are seldom observed among women, younger men and children but are particularly seen in middle-aged/elderly men. We report a case of severe acute hepatitis E caused by genotype 3 in an immunocompetent 40-year-old woman that required prolonged hospitalization. ⋯ Serological markers for hepatitis viruses A, B and C were negative but serum was positive for hepatitis E virus RNA. Sequencing and phylogenetic analysis revealed that the hepatitis E virus strain belonged to subgenotype 3a. This is suggestive of an association between the severe acute hepatitis E virus genotype 3 infection and the autoimmune background.
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Portugal is experiencing the effects of the COVID-19 pandemic since March 2020. All-causes mortality in Portugal increased during March and April 2020 compared to previous years, but this increase is not explained by COVID-19 reported deaths. The aim of this study was to analyze and consider other criteria for estimating excessive all-cause mortality during the early COVID-19 pandemic period. ⋯ Despite the inherent uncertainty, the excess mortality occurred between March 1 and April 22 could be 3.5- to 5-fold higher than what can be explained by the official COVID-19 deaths [corrected].
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Patient Centred Medicine is a method and a model of practicing allowing gains for both the doctor and the patient. Its practice must be evaluated for purposes of continuous professional development and continuous medical education. The aim of this study was to create an instrument focused in measuring the practice based on person centered medicine in general and family medicine, as well as in determining its reliability and validity. ⋯ The questionnaire presents good reliability and validity, thus allowing doctors to assess their main weaknesses, as well as enabling the development of specific training.