2 research outputs found
Hiperplasia congénita da supra-renal não clássica (hcsr-nc) por deficiência de 21-hidroxilase: avaliação clínica e aconselhamento genético de duas famílias portuguesas
Introdução:
A hiperplasia congénita da supra renal surge por deficiência de 21-hidroxilase em 90-95% dos casos. É uma das doenças hereditárias de transmissão autossómica recessiva mais frequente. A gravidade da doença resulta do grau de deficiência enzimática da 21-hidroxilase, que depende da mutação que ocorre no gene CYP21A2. Pode ter duas apresentações clínicas: a forma clássica (perdedora de sal ou simplesmente virilizante) mais grave e a forma não clássica (ou expressão tardia) com bloqueio enzimático menos grave.
Objetivos:
Estudo de duas famílias portuguesas com HCSR-NC para melhor avaliação clínica e aconselhamento genético dessas famílias.N/
SARS-CoV-2 introductions and early dynamics of the epidemic in Portugal
Genomic surveillance of SARS-CoV-2 in Portugal was rapidly implemented by
the National Institute of Health in the early stages of the COVID-19 epidemic, in collaboration
with more than 50 laboratories distributed nationwide.
Methods By applying recent phylodynamic models that allow integration of individual-based
travel history, we reconstructed and characterized the spatio-temporal dynamics of SARSCoV-2 introductions and early dissemination in Portugal.
Results We detected at least 277 independent SARS-CoV-2 introductions, mostly from
European countries (namely the United Kingdom, Spain, France, Italy, and Switzerland),
which were consistent with the countries with the highest connectivity with Portugal.
Although most introductions were estimated to have occurred during early March 2020, it is
likely that SARS-CoV-2 was silently circulating in Portugal throughout February, before the
first cases were confirmed.
Conclusions Here we conclude that the earlier implementation of measures could have
minimized the number of introductions and subsequent virus expansion in Portugal. This
study lays the foundation for genomic epidemiology of SARS-CoV-2 in Portugal, and highlights the need for systematic and geographically-representative genomic surveillance.We gratefully acknowledge to Sara Hill and Nuno Faria (University of Oxford) and
Joshua Quick and Nick Loman (University of Birmingham) for kindly providing us with
the initial sets of Artic Network primers for NGS; Rafael Mamede (MRamirez team,
IMM, Lisbon) for developing and sharing a bioinformatics script for sequence curation
(https://github.com/rfm-targa/BioinfUtils); Philippe Lemey (KU Leuven) for providing
guidance on the implementation of the phylodynamic models; Joshua L. Cherry
(National Center for Biotechnology Information, National Library of Medicine, National
Institutes of Health) for providing guidance with the subsampling strategies; and all
authors, originating and submitting laboratories who have contributed genome data on
GISAID (https://www.gisaid.org/) on which part of this research is based. The opinions
expressed in this article are those of the authors and do not reflect the view of the
National Institutes of Health, the Department of Health and Human Services, or the
United States government. This study is co-funded by Fundação para a Ciência e Tecnologia
and Agência de Investigação Clínica e Inovação Biomédica (234_596874175) on
behalf of the Research 4 COVID-19 call. Some infrastructural resources used in this study
come from the GenomePT project (POCI-01-0145-FEDER-022184), supported by
COMPETE 2020 - Operational Programme for Competitiveness and Internationalisation
(POCI), Lisboa Portugal Regional Operational Programme (Lisboa2020), Algarve Portugal
Regional Operational Programme (CRESC Algarve2020), under the PORTUGAL
2020 Partnership Agreement, through the European Regional Development Fund
(ERDF), and by Fundação para a Ciência e a Tecnologia (FCT).info:eu-repo/semantics/publishedVersio