18 documents found, page 1 of 2
Corrigendum: Evidence for a genetic contribution to the ossification of spinal ...
Couto, Ana Rita; Parreira, Bruna; Power, Deborah Mary; Pinheiro, Luís; Dias, João Madruga; Novofastovski, Irina; Eshed, Iris; Sarzi-Puttini, Piercarlo
The Role of Biobanks in the Fight against COVID-19 Pandemic: The Portuguese Res...
Abdulghani, Saba; Afonso, Ângela; Castillo, Mireia; Martín-Fernández, Javier; Franco, Inês; Parreira, Bruna; Couto, Ana; Bruges-Armas, JácomeN/a.; N/a.
Evidence for a genetic contribution to the ossification of spinal ligaments in ...
Couto, Ana Rita; Parreira, Bruna; Power, Deborah; Pinheiro, Luís; Madruga Dias, João; Novofastovski, Irina; Eshed, Iris; Sarzi-Puttini, PiercarloDiffuse Idiopathic Skeletal Hyperostosis (DISH) and Ossification of the Posterior Longitudinal Ligament (OPLL) are common disorders characterized by the ossification of spinal ligaments. The cause for this ossification is currently unknown but a genetic contribution has been hypothesized. Over the last decade, many studies on the genetics of ectopic calcification disorders have been performed, mainly on OPLL. M...
Detection and quantification of EGFR T790M mutation in liquid biopsies by dropl...
Silveira, Catarina; Sousa, Ana Carla; Janeiro, André; Malveiro, Sara; Teixeira, Encarnação; Brysch, Eva; Pantarotto, Marcos; Felizardo, MargaridaBackground: Liquid biopsy allows the identification of targetable cancer mutations in a minimally invasive manner. In patients with advanced non-small cell lung cancer (NSCLC), droplet digital PCR (ddPCR) is increasingly used to genotype the epidermal growth factor receptor (EGFR) gene in circulating cell-free DNA (cfDNA). However, the sensitivity of this method is still under debate. The aim of this study was ...
Epidemiology and genetic variability of respiratory syncytial virus in Portugal...
Sáez-López, Emma; Cristóvão, Paula; Costa, Inês; Pechirra, Pedro; Conde, Patrícia; Guiomar, Raquel; Peres, Maria João; Viseu, Regina; Lopes, PauloIntroduction: Respiratory syncytial virus (RSV) is associated with substantial morbidity and mortality since it is a predominant viral agent causing respiratory tract infections in infants, young children and the elderly. Considering the availability of the RSV vaccines in the coming years, molecular understanding in RSV is necessary. Objective: The objective of the present study was to describe RSV epidemiolog...
Cross-protection to new drifted influenza A(H3) viruses and prevalence of prote...
Guiomar, Raquel; Pereira da Silva, Susana; Conde, Patrícia; Cristóvão, Paula; Maia, Ana Carina; Pechirra, Pedro; Rodrigues, Ana Paula; Nunes, BaltazarIntroduction: Immune profile for influenza viruses is highly changeable over time. Serological studies can assess the prevalence of influenza, estimate the risk of infection, highlight asymptomatic infection rate and can also provide data on vaccine coverage. The aims of the study were to evaluate pre-existing cross-protection against influenza A(H3) drift viruses and to assess influenza immunity in the Portugu...
Cross-protection to new drifted influenza A(H3) viruses and prevalence of prote...
Guiomar, Raquel; Pereira da Silva, Susana; Conde, Patrícia; Cristóvão, Paula; Maia, Ana Carina; Pechirra, Pedro; Rodrigues, Ana Paula; Nunes, BaltazarIntroduction: Immune profile for influenza viruses is highly changeable over time. Serological studies can assess the prevalence of influenza, estimate the risk of infection, highlight asymptomatic infection rate and can also provide data on vaccine coverage. The aims of the study were to evaluate pre-existing cross-protection against influenza A(H3) drift viruses and to assess influenza immunity in the Portugu...
Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease
Raposo, Mafalda; Bettencourt, Conceição; Maciel, P.; Gao, Fuying; Ramos, Amanda; Kazachkova, Nadiya; Vasconcelos, João; Kay, Teresa; Rodrigues, Ana JoãoBACKGROUND: Machado-Joseph disease (or spinocerebellar ataxia type 3) is a late-onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes for the ubiquitously expressed protein ataxin-3. Previous studies on cell and animal models have suggested that mutated ataxin-3 is involved in transcriptional dysregulation. Starting with a whole-transcriptome profiling of periphera...
TRAF1/C5 but not PTPRC variants are potential predictors of rheumatoid arthriti...
Canhao, Helena; Rodrigues, Ana Maria; Santos, Maria; Carmona-Fernandes, Diana; Bettencourt, Bruno F.; Cui, Jing; Rocha, Fabiana L.; Canas Silva, JoséBackground: The aim of our work was to replicate, in a Southern European population, the association reported in Northern populations between PTPRC locus and response to anti-tumor necrosis factor (anti-TNF) treatment in rheumatoid arthritis (RA). We also looked at associations between five RA risk alleles and treatment response. Methods: We evaluated associations between anti-TNF treatment responses assessed b...
Genetic predictors of poor prognosis in Portuguese patients with Juvenile Idiop...
Mourão, Ana; Santos, Maria; Mendonça, Sílvia; Oliveira-Ramos, Filipa; Salgado, Manuel; Estanqueiro, Paula; Melo-Gomes, José; Martins, FernandoIntroduction: This study aimed to assess the genetic determinants of poor outcome in Portuguese patients with juvenile idiopathic arthritis (JIA). Methods: Our study was conducted in Reuma.pt, the Rheumatic Diseases Portuguese Register, which includes patients with JIA. We collected prospectively patient and disease characteristics and a blood sample for DNA analysis. Poor prognosis was defined as CHAQ/HAQ >0.7...