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- Vigilância Laboratorial da Tuberculose em Portugal: relatório 2024Publication . Laboratório Nacional de Referência de MicobactériasRelatório de Vigilância Laboratorial da Tuberculose em Portugal referente ao ano de 2024, elaborado pelo Laboratório Nacional de Referência de Micobactérias (LNR-TB) do Departamento de Doenças Infeciosas do INSA. O documento faz a análise de possíveis relações filogenéticas de todas as estirpes de MTC (complexo Mycobacterium tuberculosis) isoladas no INSA desde 2020. Em 2019, e com a disseminação dos métodos de sequenciação genómica de nova geração, o LNR-TB implementou metodologias baseadas em sequenciação do genoma total (WGS, whole genome sequencing) para efetuar, de forma sistemática e rotineira, a previsão de resistências e vigilância molecular dos casos de Tuberculose multirresistente (TB-RR/MR). Atualmente, tem capacidade instalada para efetuar esta análise genómica a todas as estirpes enviadas para diagnóstico, para informar, em tempo real, clínicos e Autoridades de Saúde do perfil completo de resistências aos antibacilares e relações filogenéticas associadas a eventuais cadeias de transmissão ativas. Para além disso, e dado que se tem assistido a um ressurgimento dos casos de lepra a nível mundial, em 2023, o LNR-TB implementou um método de diagnóstico molecular de Mycobacterium leprae, que possibilita a deteção precoce dos casos, essencial para o controlo da doença e para a melhoria da resposta terapêutica.
- Overweight, Obesity, And Cardiovascular Disease In Heterozygous Familial Hypercholesterolaemia: The EAS FH Studies Collaboration RegistryPublication . Elshorbagy, Amany; Vallejo-Vaz, Antonio J.; Barkas, Fotios; Lyons, Alexander R.M.; Stevens, Christophe A.T.; Dharmayat, Kanika I.; Catapano, Alberico L.; Freiberger, Tomas; Hovingh, G. Kees; Mata, Pedro; Raal, Frederick J.; Santos, Raul D.; Soran, Handrean; Watts, Gerald F.; Abifadel, Marianne; Aguilar-Salinas, Carlos A.; Alhabib, Khalid F.; Alkhnifsawi, Mutaz; Almahmeed, Wael; Alnouri, Fahad; Alonso, Rodrigo; Al-Rasadi, Khalid; Al-Sarraf, Ahmad; Arca, Marcello; Ashavaid, Tester F.; Averna, Maurizio; Banach, Maciej; Becker, Marianne; Binder, Christoph J.; Bourbon, Mafalda; Brunham, Liam R.; Chlebus, Krzysztof; Corral, Pablo; Cruz, Diogo; Davletov, Kairat; Descamps, Olivier S.; Dwiputra, Bambang; Ezhov, Marat; Groselj, Urh; Harada-Shiba, Mariko; Holven, Kirsten B.; Humphries, Steve E.; Kayikcioglu, Meral; Khovidhunkit, Weerapan; Lalic, Katarina; Latkovskis, Gustavs; Laufs, Ulrich; Liberopoulos, Evangelos; Lima-Martinez, Marcos M.; Maher, Vincent; Marais, A David; März, Winfried; Mirrakhimov, Erkin; Miserez, André R.; Mitchenko, Olena; Nawawi, Hapizah; Nordestgaard, Børge G.; Panayiotou, Andrie G.; Paragh, György; Petrulioniene, Zaneta; Pojskic, Belma; Postadzhiyan, Arman; Reda, Ashraf; Reiner, Željko; Reyes, Ximena; Sadiq, Fouzia; Sadoh, Wilson Ehidiamen; Schunkert, Heribert; Shek, Aleksandr B.; Stroes, Erik; Su, Ta-Chen; Subramaniam, Tavintharan; Susekov, Andrey V.; Tilney, Myra; Tomlinson, Brian; Truong, Thanh Huong; Tselepis, Alexandros D.; Tybjærg-Hansen, Anne; Vázquez-Cárdenas, Alejandra; Viigimaa, Margus; Vohnout, Branislav; Yamashita, Shizuya; Ray, Kausik K.; EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)Background and aims: Overweight and obesity are modifiable risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population, but their prevalence in individuals with heterozygous familial hypercholesterolaemia (HeFH) and whether they confer additional risk of ASCVD independent of LDL cholesterol (LDL-C) remains unclear. Methods: Cross-sectional analysis was conducted in 35 540 patients with HeFH across 50 countries, in the EAS FH Studies Collaboration registry. Prevalence of World Health Organization-defined body mass index categories was investigated in adults (n = 29 265) and children/adolescents (n = 6275); and their association with prevalent ASCVD. Results: Globally, 52% of adults and 27% of children with HeFH were overweight or obese, with the highest prevalence noted in Northern Africa/Western Asia. A higher overweight/obesity prevalence was found in non-high-income vs. high-income countries. Median age at familial hypercholesterolaemia diagnosis in adults with obesity was 9 years older than in normal weight adults. Obesity was associated with a more atherogenic lipid profile independent of lipid-lowering medication. Prevalence of coronary artery disease increased progressively across body mass index categories in both children and adults. Compared with normal weight, obesity was associated with higher odds of coronary artery disease in children (odds ratio 9.28, 95% confidence interval 1.77-48.77, adjusted for age, sex, lipids, and lipid-lowering medication) and coronary artery disease and stroke in adults (odds ratio 2.35, 95% confidence interval 2.10-2.63 and odds ratio 1.65, 95% confidence interval 1.27-2.14, respectively), but less consistently with peripheral artery disease. Adjusting for diabetes, hypertension and smoking modestly attenuated the associations. Conclusions: Overweight and obesity are common in patients with HeFH and contribute to ASCVD risk from childhood, independent of LDL-C and lipid-lowering medication. Sustained body weight management is needed to reduce the risk of ASCVD in HeFH.
- CCL2 expression predicts clinical outcomes and regulates E-cadherin and angiogenesis in pituitary tumoursPublication . Silva, Ana Luísa; Barry, Sayka; Lopes-Pinto, Mariana; Joaquim, Rita; Miranda, Catarina; Reis, Fábio; Miranda, Micaella; Matos, Paulo; Suleyman, Oniz; Oliveira, Tiago; López-Presa, Dolores; Borrecho, Gonçalo; Tortosa, Francisco; Faria, Claúdia C.; Korbonits, Márta; Marques, PedroThe crosstalk between tumour cells and microenvironment components in pituitary neuroendocrine tumours (PitNETs), including chemokines, may impact tumour behaviour and clinical outcomes. CCL2 was previously identified as a key chemokine in PitNETs, but its role remains unknown. We aimed to study the role of CCL2 in defining the phenotype and clinical outcomes of PitNETs and in regulating macrophage chemotaxis, epithelial-to-mesenchymal transition (EMT) and angiogenesis. We studied CCL2 and E-cadherin expression, macrophages (CD68 and CD163) and vessels (CD31) in samples from 86 PitNET patients. Higher CCL2 mRNA expression was found in patients who required multimodal and multiple treatments and had active disease at the last follow-up. Higher CCL2 immunoreactivity was observed in patients with larger PitNETs. Among somatotroph tumours, CCL2 mRNA expression correlated with serum IGF-1 at the last follow-up. CCL2 mRNA expression levels correlated negatively with CDH1 expression and with E-cadherin complete membranous staining. In vitro, CCL2 downregulated E-cadherin expression in GH3 cells but did not affect cell morphology or migration. CCL2 expression correlated with the number of vessels, vessel perimeter and vessel area in PitNETs but not with PitNET-infiltrating macrophages. Our data suggest that CCL2 may lead to (or is at least a predictive marker of) poorer clinical outcomes and more difficult-to-treat PitNETs, potentially through its regulatory effects on different tumour-related mechanisms beyond immune cell chemotaxis, including in the activation of the EMT pathway and modulation of angiogenesis in PitNETs. Further studies are needed to corroborate our findings and to validate CCL2 as a potential predictive marker and therapeutic target in PitNETs.
- Distribution of Chlamydia trachomatis ompA-genotypes over three decades in PortugalPublication . Lodhia, Zohra; Cordeiro, Dora; Correia, Cristina; João, Inês; Carreira, Teresa; Vieira, Luís; Nunes, Alexandra; Ferreira, Rita; Schäfer, Sandra; Aliyeva, Elzara; Portugal, Clara; Monge, Isabel; Pessanha, Maria Ana; Toscano, Cristina; Côrte-Real, Rita; Antunes, Marília; Gomes, Joao Paulo; Borges, Vítor; Borrego, Maria JoséObjectives: Chlamydia trachomatis is classified into 15 major genotypes, A to L3, based on the diversity of ompA gene. Here, we evaluated and characterised the distribution and diversity of ompA-genotypes over 32 years (1990–2021) in Portugal. Methods: The collection of the Portuguese National Reference Laboratory for Sexually Transmitted Infections includes 5824 C. trachomatis-positive samples that were successfully ompA-genotyped between 1990 and 2021. An in-depth analysis of ompA-genotypes distribution across the years, as well as by biological sex, age and anatomical site of infection was performed. Results: ompA-genotype E was consistently the most frequently detected across the years, with a median frequency of 34.6%, followed by D/Da (17.6%), F (14.3%) and G (10.7%). The prevalence of lymphogranuloma venereum (LGV) genotypes (mostly L2, 62.0%, followed by L2b, 32.1%) increased since 2016, reaching the highest value in 2019 (20.9%). LGV, G and Da genotypes were associated with biological sex, specifically with being male, and were the most frequent among anorectal specimens (37.7%, 19.4% and 17.7%, respectively). Notably, LGV ompA-genotypes represented 38.9% of the male anorectal specimens since 2016, and were also detected among oropharynx and urogenital samples. ompA-genotype E was the most frequently detected at the oropharynx (28.6%) and urogenital (33.9%) sites during the study period, followed by D/Da (17.4%) and F (16.0%) in the urogenital specimens, and by G (26.1%) and D/Da (25.7%) in oropharynx specimens. Our data also highlight the emergence of the recombinant L2b/D-Da strain since 2017 (representing between 2.0% and 15.5% of LGV cases per year) and the non-negligible detection of ompA-genotype B in urogenital and anorectal specimens. Conclusions: This study provides a comprehensive landscape of C. trachomatis molecular surveillance in Portugal, highlighting the continued relevance of ompA-genotyping as a complement to rapid LGV-specific detection tests. It also contributes to a deeper understanding of C. trachomatis epidemiology, diversity and pathogenicity.
- After all, Porphyria exists in Portugal! A three-year studyPublication . Ferreira, Filipa; Carmona, Célia; Lopes, A.; Ramos, S.; Nogueira, Célia; Pereira, Cristina; Pavão, C.; Oliveira, F.; Pimenta, R.; Brasão, L.; Ladeira, N.; Freitas, E.; Araújo, G.; Murteira, F.; Soeiro, B.; Queirós, P.; Mesquita, A.; Viegas, C.; Couto, E.; Madaleno, J.; Ferreira, F.; Campos, T.; Araújo, J.; Fernandes, A.; Jacinto, C.; Silva, G.; Santos, T.; Silva, I. Ferreira; Gomes, D.; Brito-Avô, L.; Moreira, S.; Oliveira, A.; Vilarinho, LauraIntroduction: Porphyrias are a group of eight rare inherited disorders, each caused by a defect in a specific enzymatic step of heme biosynthesis. These disorders are multisystemic, with variable symptoms, and represent a major burden for patients and families, with disabling chronic symptoms scattered with life-threatening acute attacks. There are two main clinical types of porphyria: acute porphyria and cutaneous porphyria. Acute porphyrias are often misdiagnosed because of their diverse clinical manifestations, which can mimic other diseases . Methods: Porphyrin precursor accumulation patterns and total urine porphyrins (TUP) are the first-line laboratory tests. The determination of porphyrin profiles in biological samples and the plasmatic emission fluorescence peak are the second-line tests. The NGS porphyria panel is the third-line test. Results/Case report: In Portugal, our unit (URN-INSA, Porto), also an associate member of IpNet (International Porphyria Network), is currently considered the reference laboratory for the biochemical and molecular characterization of porphyria. Since 2022, a cohort of 139 patients has been screened for porphyria. The development of acute and cutaneous diagnostic algorithms has resulted in 34 porphyrias: 5 cases of Acute Intermittent Porphyria (AIP), 1 Variegata Porphyria (VP), 2 Hereditary Coproporphyria (HCP), 23 Porphyria Cutanea Tarda (PCT) and 3 Erythropoietic Protoporphyria (EPP). Conclusion: Even so, these figures are lower in comparison to other similar countries, as we should have a higher prevalence. This diagnosis was not available in our country, which is now possible at URN-INSA. From this work, we have concluded that the articulation between the clinician and the laboratory is crucial to choosing the right biochemical test to achieve the correct diagnosis and complete characterization of the disease. Porphyria exists; we just have to look for it!
- Health Intervention’s Evaluation – from concept to practicePublication . GOMEZ TEIXEIRA PINTO, VERÓNICA DEL PILARBackground: The InfAct (Information for Action) is a Joint Action of the European Commission’s 3rd Health Programme with the main goal to build a health information system infrastructure for a stronger European Union and to strengthen its core elements. The InfAct Joint Action was developed along 36 months and structured in 10 work packages. Portugal co-led the Work Package 6 (WP6) of this project, which included the development of the proposal of a flagship capacity building programme - the European Health Information Training Programme - and its evaluation. The evaluation objectives included: to evaluate the adequacy of the training programme to the health information needs in the European Member States; to identify possible changes regarding the participants selection process, the training activities and the pedagogical project; and to contribute to the understanding of the potential of the programme to add to available offers in learning on the topics of Public Health information, on the capacity building and behavioural changes in Public Health activities which can be attributed to the course, and of the potential of the programme to contribute to the alignment of health information criteria and procedures between the European Member States. Methods: The evaluation process was developed using an observational descriptive study design using a mixed methodological approach with both document analysis and primary data collected by questionnaires and interviews analysis. Mixed quantitative and qualitative data collection methods and analysis were used. Results: The proposal of the European Health Intervention’s Training Programme seemed adequate to the formative needs and capacities in line with the work performed by the InfAct project. In what concerns about its main thematic areas, it was also aligned with the areas identified in the previous formative needs and capacities mapping. The participants selection process proposed seemed, in general, adequate. The potential of the European Health Information Training Programme proposal to learning, capacity building and behavioral changes at work attributable to the course was considered positive, as well as the potential to the alignment of health information criteria and procedures between European Union Member States. Discussion: In general, we found high consistency between the results obtained from data collected by the techniques used. However, different suggestions for improvement were outlined by the evaluation study population.