Departamento de Genética Humana
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- Doenças lisossomais de sobrecarga: da epidemiologia genética ao desenvolvimento de modelos de doençaPublication . Moreira, Luciana; Coutinho, Maria Francisca; Moutinho, Maria Eduarda; Almeida, Matilde Barbosa; Gonçalves, Francisca; Carvalho, Sofia; Amaral, Olga; Duarte, Ana Joana; Encarnação, Marisa; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Ribeiro, Diogo; Rocha, Hugo; Santos, Juliana Inês; Alves, Sandra; .
- Surveillance of invasive meningococcal disease in Portugal, from 2020 to 2024Publication . Bettencourt, Célia; Nunes, A.; VigLab-DM – Network for the Laboratory Surveillance of Meningococcal Disease; Bajanca-Lavado, M.P.; .Introduction: Since 2002, laboratory surveillance of Invasive Meningococcal Disease (IMD) has been carried out by the National Reference Laboratory for Neisseria meningitidis, at the National Institute of Health Doutor Ricardo Jorge, Portugal. This study aims to analyse the epidemiology of IMD and the genetic diversity of Neisseria meningitidis strains from 2020 to 2024. Material and Methods: Suspected IMD cases and N. meningitidis isolates were sent to the reference laboratory for confirmation and strain characterization. Invasive isolates were characterized by WGS (Illumina) and sequences were submitted to the PubMLST/Neisseria database. Results: Between 2020 to 2024, 125 IMD cases were confirmed. Annual incidence rate ranged from 0.36 cases/100,000 inhabitants in 2020 to 0.32 in 2023 [1, 2]. Serogroup B was the most prevalent (49.6%), followed by serogroups Y (14.4%), W (13.6%) and C (5.6%). Serogroup W mainly affected those over 45 years old (58.8%). In silico analysis of 89 (71.2%) isolates identified major clonal complexes (cc): B-cc213 (22%) and cc41/44 (18%), Y-cc23 (80%), W-cc11 (66.7%), and C-cc11/cc103 (33.3% each). Conclusions: Compared to previous studies (2003-2020), the incidence of IMD in Portugal has decreased [1-3]. However, serogroup B remains the leading cause of IMD, raising concerns, particularly due to cases in children and emerging clusters with low vaccination coverage (e.g. serogroup B cc213) [4]. In contrast, serogroup W cases have increased, especially among adults [2, 3]. This study highlights the importance of laboratory surveillance for understanding IMD epidemiology and monitoring long-term trends.
- Tracking Mycotoxin Exposure in Portugal: New Insights and Key DeterminantsPublication . Namorado, Sónia; Maris, Elias; Chen, A.; Pero-Gascon, Roger; de Boevre, Marthe; De Saeger, Sarah; Silva, Maria João; Alvito, Paula; .Human biomonitoring (HBM) is a vital tool for assessing exposure to environmental chemicals. Mycotoxins have been associated with various adverse health effects, including estrogenic, immunotoxic, nephrotoxic, and teratogenic outcomes. In this presentation an overview of two recent HBM studies on multiple mycotoxins exposure biomarkers conducted in Portugal will be given. The first study analyzed 37 mycotoxin biomarkers in urine samples from 94 adult participants (48.4 ± 15.2 years), as part of the National Food, Nutrition, and Physical Activity Survey (2015–2016). Six different mycotoxins -DON, ZEN, AOH, OTA, FB1, and CIT- was confirmed through the quantification of 12 urinary biomarkers in paired 24 h and first-morning urine samples. DON and its metabolites were among the most frequently detected biomarkers and AOH was identified for the first time in urine samples from a European population. Associations between urinary mycotoxin biomarkers and consumption of specific food items were also observed. More recently, a subset of 295 first-morning urine samples from adults (28–39 years) was collected between 2019-2020, as part of a cross-sectional study embedded within the Portuguese National Health Examination Survey (INSEF). These samples were analyzed using a newly optimized and validated LC-MS/MS method capable of detecting 40 mycotoxins and/or their metabolites in urine. DON and tenuazonic acid were the most frequently detected, with detection rates of 85% and 96%, respectively. Further investigations into key exposure determinants—including dietary habits, demographic factors, and geographical variations—are ongoing and will be presented. Altogether, these findings highlight the importance of continued surveillance and the integration of HBM into national food safety and public health strategies.