DGH - Artigos em revistas internacionais
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- Genetic variants in the IFNGR2 locus associated with severe chronic Q feverPublication . David, Susana; Castro, Liliana; Duarte, Elsa; Gaspar, Ulisses; Rodrigues, Maria Rosário da Costa; Cueto-Rojo, Maria Vanessa; Mendonça, Joana; Ferrão, José; Machado, Miguel; Poças, José; Lavinha, João; Vieira, Luís; Santos, Ana Sofia; ElsevierQ fever is a highly contagious zoonosis capable of causing large outbreaks of important health and economic consequences. Host genetic factors are believed to influence the development of severe chronic Q fever following the infection by the etiological agent, Coxiella burnetii. Targetted next generation sequencing (NGS) was performed in a case-control genetic association study on 53 confirmed Q fever cases, including 38 compatible with acute and 15 with chronic disease, and 29 samples from the general Portuguese population. Four SNPs in the IFNGR2 locus, rs78407108 G > A, rs17879956 C > T, rs7277167 C > T, and rs9974603 C > A, showed a statistically significant association to chronic Q fever, resisting the Bonferroni correction. These belonged to haplotypes significantly associated with chronic Q fever. The individual SNPs are referenced in the GTEx database as possible eQTLs. Given the direct bearing of IFNGR2 on IFN-γ signaling, the possible involvement of the associated variants with higher IFNGR2 expression could be in line with observations suggesting that IFN-γ production in chronic Q fever patients is significantly higher than in healthy controls. Further investigations are required to clarify the role of IFNGR2 signaling in association with chronic Q fever.
- Preliminary characterization of Vibrio cholerae strains isolated from seafood samples marketed in PortugalPublication . Lopes, Teresa; Lopes, David; Moura, Isabel Bastos; Sousa, Isabel; Rodrigues, João; Fernandes, Camila; Barreira, Maria João; Maia, Carla; Correia, Cristina Belo; Pintado, Cristina; Saraiva, Margarida; Batista, Rita; ElsevierVibrio cholerae, a natural inhabitant of aquatic ecosystems, has been related with gastrointestinal infections, particularly those associated with seafood consumption. This preliminary study aimed to evaluate the presence and characteristics of Vibrio cholerae, in seafood marketed in Portugal, given its potential role as a foodborne pathogen. Thus, the occurrence of Vibrio cholerae in 129 seafood raw samples (105 of shrimp and 24 of oysters), marketed in Portugal, was assessed. Isolates’ characterization regarding the presence of antimicrobial resistance (AMR) genes and of pathogenicity-specific genetic traits was attained by whole-genome sequencing (WGS). Core-genome Multi Locus Sequence Typing (cgMLST) analyses to evaluate the genetic relatedness among the isolates, and with other V. cholerae strains isolated in the world, as well as phenotypic AMR (performed by disc diffusion), were also attained. Overall, 43/129 (33.3 %) of the samples tested positive for V. cholerae (41/105 (39.1 %) of the shrimp and 2/24 (8.3 %) of the oysters’ samples). WGS analyses classified the studied strains as non-O1/non-O139 Vibrio cholerae (NOVC), lacking the main cholerae virulence factors encoded by the CTX phage. However, they carry diverse virulence factors similar to those found in O1 and O139 strains and/or in NOVC clinical strains. Furthermore, eight strains were classified as multidrug-resistant (MDR). The cg-MLST analyses revealed six genetic clusters among the 43 isolates (three identified sequence types - ST829, ST833, ST1085). Although it was not possible to find a close genetic relatedness between the studied V. cholerae strains and other deposited in PuBMLST database, a high genetic proximity among some strains isolated in different countries and from different sources (environmental and human) was observed, reinforcing the importance of a One Health approach. Assessing occurrence, pathogenic potential and genetic relatedness of Vibrio cholerae strains in the Portuguese food supply chain, this study contributes to understand their public health significance and supports a One Health approach to prevent foodborne outbreaks, contributing to food safety.
- Sitosterolemia In iberoamerican countries: 16 new cases and phenotype genotype analysisPublication . Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Medeiros, Ana Margarida; Graça, Rafael; Bañares, Virginia G.; Araujo, Maria Beatriz; Vilagut, Ferrán Trías; Soler, Cristina; Meavilla, Silvia; Toledo, Maria J. Benitez; Volpe, Camila Garcia; Reyes, Ximena; Dell'Oca, Nicolás; Martins, Paula; Marado, Diana; Vilarinho, Laura; Dias, Aureliano Jorge; Ferreira, Ana Cristina; Padeira, Gonçalo; Casañas, Marta; Alegre-González, Diana; Lozano, José Mosquera; Aguiar, Patrício; Gonçalves, Filipa Sousa; Ernaga, Ander; Apellaniz-Ruiz, Maria; Rubi, Rodrigo; Figueroa, Nahún Muñoz; Vasquez, Norma Alejandra; Valdivielso, Pedro; Bourbon, Mafalda; ElsevierBackground: Sitosterolemia is a rare autosomal recessive lipid disorder caused by biallelic pathogenic variants in ABCG5 or ABCG8 genes. It is characterized by elevated plasma plant sterol concentrations, xanthomas, and an increased risk of premature cardiovascular disease. As happens with familial hypercholesterolemia (FH), sitosterolemia is subdiagnosed and is frequently confounded with FH, resulting in inappropriate management. This study aims to describe newly identified cases across Iberoamerican countries and to highlight the need for improved diagnostic strategies. Methods: We report 16 cases of molecularly confirmed sitosterolemia from 5 Iberoamerican countries (Argentina, Mexico, Portugal, Spain, and Uruguay), including 12 index cases and 4 relatives identified by cascade screening. Clinical, biochemical, and molecular data were collected and analyzed. β-sitosterol levels were measured when possible, and variant classification followed American College of Medical Genetics and Genomics (ACMG) guidelines with disease-specific adaptations. Results: Fifteen individuals had biallelic variants in ABCG8 and 1 had a homozygous frameshift variant in ABCG5. Ten distinct ABCG8 variants were identified, including 7 nonsense and 3 missense variants. Xanthomas were observed in 56% of cases. Most cases were initially diagnosed as FH, with a diagnostic delay of up to 30 years. Treatment with ezetimibe, alone or combined with statins, led to biochemical and clinical improvement, including xanthoma regression in some cases. Conclusion: Sitosterolemia remains underdiagnosed due to lack of systematic screening and clinical overlap with FH. Our findings highlight the importance of including ABCG5/8 in genetic testing panels and of recognizing clinical clues for early diagnosis, enabling targeted treatment and prevention of adverse outcomes. Adapted ACMG variant classification improves interpretability for ABCG5/8-related sitosterolemia.