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Institute for Research and Innovation in Health
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SARS-CoV-2 antibody prevalence in the portuguese municipality of Vila Nova de Gaia after the first wave of the pandemic
Publication . De Carvalho, Álvaro; Virgolino, Ana; Queirós, Paula; Henriques, Ana; Canhao, Helena; Rodrigues, Ana Maria; Barbosa, Veneranda; Rodrigues, Joana; Germano de Sousa, José; Guimarães, Miguel
Introduction: Assessment of SARS-CoV-2 seroprevalence may detect the real spread of the virus because antibody data can provide a long-lasting measure of infection. Existing serological studies in Portugal have tested new serology methods, albeit with small sample sizes and a lack the focus on geographical regions with a high rate of infection cases. The aim of this study was to estimate the serological prevalence of SARS-CoV-2 in Vila Nova de Gaia, the most populous municipality in the north of Portugal and one of those most affected during the first pandemic wave. Material and Methods: A cross-sectional observational study was conducted between June 23rd and July 17th, 2020. Included in the cohort were 18- to 74-year-old men and women living in the municipality of Vila Nova de Gaia, who were sampled through a nonprobabilistic quota-based approach. Cases with a previous RT-PCR diagnosis of COVID-19 were excluded. Sociodemographic and clinical information was collected using a self-administered, written questionnaire. Blood samples were collected for serological laboratory analysis to detect and quantify SARS-CoV-2 anti-IgG antibodies. Results: We tested 2754 participants. Our results show a SARS-CoV-2 seroprevalence of 3.03% (95% confidence interval: 2.37% – 3.87%). Being a smoker (odds ratio: 0.382, 95% confidence interval: 0.147 – 0.99) and having symptoms of COVID-19 (odds ratio: 2.480, 95% confidence interval: 1.360 – 4.522) were consistently associated with lower and higher odds of SARS-CoV-2 antibody presence, respectively, regardless of the analytic design. Moreover, without adjusting for any variables, having had contact with an infected person within the household was associated with increased odds of a positive test (odds ratio: 9.684, 95% confidence interval: 4.06 – 23.101); after adjusting, having self-reported chronic diseases (odds ratio: 0.448, 95% confidence interval: 0.213 – 0.941) was associated with decreased odds. Conclusion: This was the first study to estimate the serological prevalence of SARS-CoV-2 in one of the most populous municipalities in Portugal, representing the first step in the development of an epidemiological surveillance system in Portugal, which can help to improve the diagnosis of COVID-19.
Molecular characterization of Portuguese patients with hereditary cerebellar ataxia
Publication . Santos, Mariana; Damásio, Joana; Carmona, Susana; Neto, João Luís; Dehghani, Nadia; Correia Guedes, Leonor; Barbot, Clara; Barros, José; Brás, José; Sequeiros, Jorge; Guerreiro, Rita
Hereditary cerebellar ataxia (HCA) comprises a clinical and genetic heterogeneous group of neurodegenerative disorders characterized by incoordination of movement, speech, and unsteady gait. In this study, we performed whole-exome sequencing (WES) in 19 families with HCA and presumed autosomal recessive (AR) inheritance, to identify the causal genes. A phenotypic classification was performed, considering the main clinical syndromes: spastic ataxia, ataxia and neuropathy, ataxia and oculomotor apraxia (AOA), ataxia and dystonia, and ataxia with cognitive impairment. The most frequent causal genes were associated with spastic ataxia (SACS and KIF1C) and with ataxia and neuropathy or AOA (PNKP). We also identified three families with autosomal dominant (AD) forms arising from de novo variants in KIF1A, CACNA1A, or ATP1A3, reinforcing the importance of differential diagnosis (AR vs. AD forms) in families with only one affected member. Moreover, 10 novel causal-variants were identified, and the detrimental effect of two splice-site variants confirmed through functional assays. Finally, by reviewing the molecular mechanisms, we speculated that regulation of cytoskeleton function might be impaired in spastic ataxia, whereas DNA repair is clearly associated with AOA. In conclusion, our study provided a genetic diagnosis for HCA families and proposed common molecular pathways underlying cerebellar neurodegeneration.
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Entidade financiadora
Fundação para a Ciência e a Tecnologia
Programa de financiamento
6817 - DCRRNI ID
Número da atribuição
UIDB/04293/2020