19 documents found, page 1 of 2

COVID-19 in Portugal: A Pandemic Redesigned by the Media

The news media in Portugal played an important role during the COVID-19 pandemic by providing people with important and up-to-date health information. However, the number of news reports did not always correspond to the severity of the pandemic. There was significant media attention at the beginning of the pandemic (in early 2020), but media coverage soon declined, and the Portuguese media began to report on a ...

COVID-19 media communications: a new role for health professionals?

[No abstract available]

Behavior Guidance during the Covid-19 Pandemic: Health Literacy as a Weapon aga...

Portugal was hit by COVID-19 on the 2nd of March 2020. For almost two months, the country was confined due to the declaration of the emergency state. The confinement was always conveyed by the media, who clearly guided citizens toward preventive behaviors and so became a means of fighting this pandemic by helping the country stay home. Several authors recognize the importance of health communication and health ...

Validation of App and Phone Versions of the Control of Allergic Rhinitis and As...

Genomic imbalances defining novel intellectual disability associated loci

Background: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmen...

Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involv...

Tuberculosis in the news: How do Portuguese media cover TB

Introduction: From a public health perspective, media can influence public perceptions towards the severity of an illness, the risks of becoming ill, change seek-care behaviours or reduce disease related stigma. Material and methods: With the aim analysing the media coverage of tuberculosis in the Portuguese press, we analyzed all news texts published between 2012 and 2014 in six National newspapers (Expresso, ...

Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mec...

Mutations in early B cell factor 3 (EBF3) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. Several large 10q terminal and interstitial deletions affecting many genes and including EBF3 have been described in the litera...

Variant Rett Syndrome in a Girl with a Pericentric X-Chromosome Inversion Leadi...

Rett syndrome is a neurodevelopmental disorder caused by mutations in the MECP2 gene. We investigated the genetic basis of disease in a female patient with a Rett-like clinical. Karyotype analysis revealed a pericentric inversion in the X chromosome -46,X,inv(X)(p22.1q28), with breakpoints in the cytobands where the MECP2 and CDKL5 genes are located. FISH analysis revealed that the MECP2 gene is not dislocated ...

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