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- Viral genetics and transmission dynamics in the second wave of mpox outbreak in Portugal and forecasting public health scenariosPublication . Cordeiro, Rita; Caetano, Constantino P.; Sobral, Daniel; Ferreira, Rita; Coelho, Luís; Pelerito, Ana; de Carvalho, Isabel Lopes; Namorado, Sónia; Loyens, Dinis B.; Mexia, Ricardo; Fernandes, Cândida; Neves, José Miguel; João, Ana Luísa; Rocha, Miguel; Duque, Luís Miguel; Correia, Inês; Baptista, Teresa; Brazão, Cláudia; Sousa, Diogo; Filipe, Paulo; Alpalhão, Miguel; Maltez, Fernando; Póvoas, Diana; Pinto, Raquel; Caria, João; Patrocínio de Jesus, Rita; Pacheco, Patrícia; Peruzzu, Francesca; Méndez, Josefina; Ferreira, Luís; Mansinho, Kamal; Alves, João Vaz; Vasconcelos, Joana; Domingos, João; Casanova, Sara; Duarte, Frederico; Gonçalves, Maria João; Salvador, Mafalda Brito; Guimarães, Mafalda Andresen; Martins, Sueila; Oliveira, Marvin Silva; Santos, Daniela; Vieira, Luís; Núncio, Maria Sofia; Borges, Vítor; Gomes, João PauloIn 2023, a second wave of the global mpox epidemic, which is mainly affecting men who have sex with men (MSM), was observed in some countries. Herein, we benefited from a large viral sequence sampling (76/121; 63%) and vast epidemiological data to characterise the re-emergence and circulation of the (MPXV) in Portugal during 2023. We also modelled transmission and forecasted public health scenarios through a compartmental susceptible-exposed-infectious-recovered (SEIR) model. Our results suggest that the 2023 mpox wave in Portugal resulted from limited introduction(s) of MPXV belonging to C.1.1 sublineage, hypothetically from Asia, followed by sustained viral transmission and potential exportation to other countries. We estimated that the contribution of the MSM high sexual activity group to mpox transmission was 120 (95% CrI: 30-3553) times higher than that of the low sexual activity group. However, among the high sexual activity group, vaccinated individuals likely contributed approximately eight times less [0.123 (95% CrI: 0.068-0.208)] than the unvaccinated ones. Vaccination was also linked to potential reduced disease severity, with a Mpox Severity Score of 6.0 in the vaccinated group compared to 7.0 in unvaccinated individuals. Scenario analysis indicated that transmission is highly sensitive to sexual behaviour, projecting that a slight increase in the MSM sub-population with high sexual activity can trigger new mpox waves. This study strongly supports that continued vaccination, targeted awareness among risk groups and routine genomic epidemiology is needed to anticipate and respond to novel MPXV threats (e.g. global dissemination of clade I viruses).
- An Overview of Monkeypox Virus Detection in Different Clinical Samples and Analysis of Temporal Viral Load DynamicsPublication . Cordeiro, Rita; Pelerito, Ana; de Carvalho, Isabel Lopes; Lopo, Sílvia; Neves, Raquel; Rocha, Raquel; Palminha, Paula; Verdasca, Nuno; Palhinhas, Cláudia; Borrego, Maria José; Manita, Carla; Ferreira, Idalina; Bettencourt, Célia; Vieira, Patrícia; Silva, Sónia; Água-Doce, Ivone; Roque, Carla; Cordeiro, Dora; Brondani, Greice; Santos, João Almeida; Martins, Susana; Rodrigues, Irene; Ribeiro, Carlos; Núncio, Maria Sofia; Gomes, João Paulo; Batista, Fernando da ConceiçãoMpox is a zoonotic disease caused by the Monkeypox virus (MPXV), and since May 2022, tens of thousands of cases have been reported in non-endemic countries. We aimed to evaluate the suitability of different sample types for mpox diagnostic and assess the temporal dynamics of viral load. We evaluated 1914 samples from 953 laboratory-confirmed cases. The positivity rate was higher for lesion (91.3%) and rectal swabs (86.1%) when compared with oropharyngeal swabs (69.5%) and urines (41.2%), indicating higher viral loads for the former. Supporting this, lesion and rectal swabs showed lower median PCR C values (C = 23 and C = 24), compared to oropharyngeal swabs and urines (C = 31). Stable MPXV loads were observed in swabs from lesions up to 30 days after symptoms onset, contrasting with a considerable decrease in viral load in rectal and oropharyngeal swabs. Overall, these results point to lesion swabs as the most suitable samples for detecting MPXV in the 2022-2023 multicountry outbreak and show comparable accuracy to rectal swabs up to 8 days after symptoms onset. These findings, together with the observation that about 5% of patients were diagnosed through oropharyngeal swabs while having negative lesions, suggest that multisite testing should be performed to increase diagnostic sensitivity.
- Adapting to COVID-19: Insights from Portuguese residents' home-based lifePublication . Aguiar, Ana; Soares, Patricia; Barbosa, Pedro; Duarte, Raquel; Pinto, MartaBackground: The COVID-19 pandemic led to widespread lockdowns and remote work and educational practices that have impacted the lives of many families. Objective: We aimed to investigate how parents and caregivers altered their routines due to online schooling and teleworking, exploring their association with increased anxiety and depression symptoms. Methods: We conducted an online cross-sectional study and collected data through snowball sampling. We asked questions about age, gender, dwelling area, educational level, and marital status, as well as an open-ended question about teleworking and homeschooling - "Did your routine change due to your children being forced to stay home and take online classes? If so, please explain how it has influenced your personal and professional life, both positively and negatively". Thematic analysis was used to analyse the responses. Results: A total of 181 respondents, primarily women (72.4%), averaging 36.6 years old, holding bachelor's degrees (44.2%), were included. About 78.5% reported routine adjustments. Four salient themes emerged: 1) Perceived changes in professional and personal life, 2) Perceived changes in learning methods, 3) Mental health issues and 4) Perceived advantages of working from home with children at online school. Regarding mental health, 25.4% exhibited symptoms of anxiety, and 7.7% displayed depression symptoms, predominantly linked (80%) to the pandemic's impact. Conclusion: Family routines were disrupted, causing stress. In future crises, policymakers, public health experts, and researchers must acknowledge these challenges to mitigate negative consequences. Simultaneously, they should focus on strategies that enhance the positive aspects of restrictive measures and related policies.
- Programa Nacional de Rastreio Neonatal: relatório 2023Publication . Vilarinho, Laura; Garcia, Paula; Pinho e Costa, Paulo; Comissão Executiva do ProgramaRelatório de atividades do Programa Nacional de Rastreio Neonatal (PNRN) relativo ao ano de 2023, elaborado pela Comissão Executiva do Programa. O documento refere todos os casos detetados, bem como os Centros de Tratamento de apoio aos doentes e a prevalência ao nascimento das doenças rastreadas, entre outra informação estatística. Do presente relatório de desenvolvimento do Programa, destaca-se o seguinte: - Em 2023, as 27 doenças integradas no painel do Programa Nacional de Rastreio Neonatal (Hipotiroidismo Congénito, Fibrose Quística, Drepanocitose (Anemia de Células Falciformes e 24 Doenças Hereditárias do Metabolismo) foram rastreadas de uma forma sistemática, em 85.764 recém-nascidos (RN) e identificados 136 doentes com uma média de idade de início de tratamento de 9,6 dias de vida; - No ano transato, teve início o estudo-piloto para o rastreio neonatal da Atrofia Muscular Espinal em 100.000 recém-nascidos que foi concluído no final deste ano com uma prevalência ao nascimento de 1:14.515; - A taxa de cobertura nacional mantém-se próxima dos 100%, o que constitui um excelente indicador de aceitação da população a este programa nacional de saúde pública; - Desde o início do Programa, foram rastreados 4.224.550 recém-nascidos e identificados 2.678 casos positivos; - Pela qualidade dos seus indicadores, número de patologias rastreadas, tempo médio de início de tratamento e taxa de cobertura a nível nacional, considera-se que é, de facto, um Programa de grande eficácia clínica e epidemiológica. Criado em 1979, este programa de saúde pública, conhecido como “teste do pezinho”, tem como objetivo primário o rastreio neonatal de doenças raras, de forma a evitar a evolução da patologia rastreada, através do diagnóstico pré-sintomático e da orientação para implementação precoce de terapia adequada. A Unidade de Rastreio Neonatal, Metabolismo e Genética do DGH, que funciona no Centro de Saúde Pública Doutor Gonçalves Ferreira do INSA no Porto, é o braço laboratorial do Programa, sendo composta pelo Laboratório Nacional de Rastreios, Laboratório de Metabolismo e Laboratório de Genética Molecular. Após 44 anos de atividade, o PNRN continua a apresentar um elevado padrão de qualidade e desenvolvimento que lhe confere um prestígio nacional e internacional por todos reconhecido e respeitado, mantendo uma trajetória e um dinamismo de que são sinais, para além dos indicadores de eficácia clínica e epidemiológica, o elevado nível de produção científica, a implementação de normas internacionais de qualidade e o alargamento do rastreio a novas entidades nosológicas.
- Revisiting mutational resistance to ampicillin and cefotaxime in Haemophilus influenzaePublication . Diricks, Margo; Petersen, Sabine; Bartels, Lennart; Lâm, Thiên-Trí; Claus, Heike; Bajanca-Lavado, Maria Paula; Hauswaldt, Susanne; Stolze, Ricardo; Vázquez, Omar Jiménez; Utpatel, Christian; Niemann, Stefan; Rupp, Jan; Wohlers, Inken; Merker, MatthiasBackground: Haemophilus influenzae is an opportunistic bacterial pathogen that can cause severe respiratory tract and invasive infections. The emergence of β-lactamase-negative ampicillin-resistant (BLNAR) strains and unclear correlations between genotypic (i.e., gBLNAR) and phenotypic resistance are challenging empirical treatments and patient management. Thus, we sought to revisit molecular resistance mechanisms and to identify new resistance determinants of H. influenzae. Methods: We performed a systematic meta-analysis of H. influenzae isolates (n = 291) to quantify the association of phenotypic ampicillin and cefotaxime resistance with previously defined resistance groups, i.e., specific substitution patterns of the penicillin binding protein PBP3, encoded by ftsI. Using phylogenomics and a genome-wide association study (GWAS), we investigated evolutionary trajectories and novel resistance determinants in a public global cohort (n = 555) and a new clinical cohort from three European centers (n = 298), respectively. Results: Our meta-analysis confirmed that PBP3 group II- and group III-related isolates were significantly associated with phenotypic resistance to ampicillin (p < 0.001), while only group III-related isolates were associated with resistance to cefotaxime (p = 0.02). The vast majority of H. influenzae isolates not classified into a PBP3 resistance group were ampicillin and cefotaxime susceptible. However, particularly group II isolates had low specificities (< 16%) to rule in ampicillin resistance due to clinical breakpoints classifying many of them as phenotypically susceptible. We found indications for positive selection of multiple PBP3 substitutions, which evolved independently and often step-wise in different phylogenetic clades. Beyond ftsI, other possible candidate genes (e.g., oppA, ridA, and ompP2) were moderately associated with ampicillin resistance in the GWAS. The PBP3 substitutions M377I, A502V, N526K, V547I, and N569S were most strongly related to ampicillin resistance and occurred in combination in the most prevalent resistant haplotype H1 in our clinical cohort. Conclusions: Gradient agar diffusion strips and broth microdilution assays do not consistently classify isolates from PBP3 groups as phenotypically resistant. Consequently, when the minimum inhibitory concentration is close to the clinical breakpoints, and genotypic data is available, PBP3 resistance groups should be prioritized over susceptible phenotypic results for ampicillin. The implications on treatment outcome and bacterial fitness of other extended PBP3 substitution patterns and novel candidate genes need to be determined.
- HBM4EU chromates study: the Portuguese integrated and harmonized study on exposure to hexavalent chromium and related early effects.Publication . Viegas, Susana; Martins, Carla; Ribeiro, Edna; Ladeira, Carina; Pinhal, Hermínia; Nogueira, Ana; Santos, Sílvia; Tavares, Ana; Gomes, Bruno Costa; Afonso, Catarina Maia; Louro, Henriqueta; Silva, Maria JoaoIn the scope of the European Union (EU) human biomonitoring initiative, a multicentric study on different occupational settings from several European countries was performed, to provide information on occupational exposure to hexavalent chromium [Cr(VI)], a known lung carcinogen. Biomonitoring approaches were used to obtain exposure data to support the implementation of new risk management measures and policy actions at the national and European levels. This work describes the Portuguese contribution to the study, which aimed to assess workers' exposure to Cr, by using exposure biomarkers (urinary chromium [U-Cr]), and industrial hygiene samples (air and hand wipes) and to link exposure to potential long-term health effects by using effect biomarkers. Exposure determinants influencing exposure were explored from the contextual information and human biomonitoring data. The ultimate goal of the study was to appraise the risk management measures contributing to minimize exposure and protect workers' health. Several occupational settings and activities were considered, including plating, welding, and painting. A control group from the Portuguese general population was also included. Data on age, sex, and smoking habits from both groups were considered in the statistical analysis. Information on the risk management measures available for workers was collected and used to identify the ones that mainly contributed to reduce exposure. Environmental monitoring and human biomonitoring revealed that painters were the highest exposed group. The use of respiratory protection equipment showed an influence on total U-Cr levels for workers involved in painting activities. Concerning early health effects, the painters presented also a significantly higher level of DNA and chromosomal damage in peripheral blood cells, as compared to the control group, suggesting a plausible association between exposure to Cr(VI) and early genotoxic effects. The results showed that workers are exposed to Cr(VI) in those occupational settings. These findings point to the need to improve the prevention and risk management measures and the implementation and enforcement of new regulatory actions at the national level.
- Fatal Case of Crimean-Congo Hemorrhagic Fever, Portugal, 2024Publication . Zé-Zé, Líbia; Nunes, Cristina; Sousa, Micaela; De Sousa, Rita; Gomes, Carla; Santos, Ana Sofia; Alexandre, Rui T.; Amaro, Fátima; Loza, Tiago; Blanco, Miriam; Alves, MJ; Tiago Loza, Miriam Blanco, Maria J AlvesWe report a fatal case of Crimean-Congo hemorrhagic fever in Portugal. An 83-year-old man, initially suspected of having Mediterranean spotted fever, was later confirmed to have Crimean-Congo hemorrhagic fever by the detection of viral genome in the patient's serum and the presence of specific IgM antibodies.
- Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman DiseasePublication . de Las Heras, Javier; Almohalla, Carolina; Blasco-Alonso, Javier; Bourbon, Mafalda; Couce, Maria-Luz; de Castro López, María José; García Jiménez, M. Concepción; Gil Ortega, David; González-Diéguez, Luisa; Meavilla, Silvia; Moreno-Álvarez, Ana; Pastor-Rosado, José; Sánchez-Pintos, Paula; Serrano-Gonzalo, Irene; López, Eduardo; Valdivielso, Pedro; Yahyaoui, Raquel; Quintero, JesúsLysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important aspects of the diagnosis and treatment of LAL-D and to provide practical expert recommendations. The infantile-onset form occurs in the first weeks of life and is characterized by malnourishment and failure to thrive due to gastrointestinal impairment (vomiting, diarrhea, malabsorption), as well as systemic inflammation, hepatosplenomegaly, and adrenal calcifications. Mortality is close to 100% before one year of life in the absence of specific treatment. The later-onset form can be diagnosed in childhood or adulthood and is characterized by chronic liver injury and/or lipid profile alterations. When LAL-D is suspected, enzyme activity should be determined to confirm the diagnosis, with analysis from a dried blood spot sample being the quickest and most reliable method. In infantile-onset LAL-D, the initiation of enzyme replacement therapy (sebelipase α) and careful nutritional management with a low-lipid diet is very urgent, as prognosis is directly linked to the early initiation of specific treatment. In recent years, our knowledge of the management of LAL-D has increased considerably, with improvements regarding the initial enzyme replacement therapy dose and careful nutritional treatment with a low-lipid diet to decrease lipid deposition and systemic inflammation, leading to better outcomes. In this narrative review we offer a quick guide for the initial management of infantile-onset LAL-D.
- Circulating miR-134 in mesial temporal lobe epilepsy: implications in hippocampal sclerosis development and drug resistancePublication . Guerra Leal, Bárbara; Carvalho, Cláudia; Santos, Cristina; Samões, Raquel; Martins-Ferreira, Ricardo; Teixeira, Catarina; Rodrigues, Diana; Freitas, Joel; Lemos, Carolina; Chorão, Rui; Ramalheira, João; Lopes, João; Martins da Silva, António; Pinho E Costa, Paulo; Chaves, JoãoAim: miR-134 has been widely reported as upregulated in experimental and human studies of Mesial Temporal Lobe Epilepsy the most common drug-resistant epilepsy (DRE). Studies have shown that the use of antagomirs, anti-miR-134, may be a promising therapeutic approach to these epilepsies. However, data on miR-134 in other epileptic syndromes is scarce. In this study, we aimed to quantify serum levels of miR-134 in a cohort of patients with Mesial Temporal Lobe Epilepsy-Hippocampal Sclerosis (MTLE-HS) and with Genetic Generalized Epilepsies (GGE). Additionally, we explored the correlation between miR-134 serum levels and clinical parameters, such as age at onset or febrile seizures antecedents, to evaluate its potential as a biomarker and therapeutic target in epilepsy. Methods: miR-134 levels were evaluated in cell-free serum of 131 patients with epilepsy (75 women, 56 men; age 41.10 ± 13.12 years; 72 with DRE) and 42 healthy individuals (25 women, 17 men; age 42.40 ± 9.80 years). The epilepsy cohort included 77 MTLE-HS patients and 54 GGE patients. Results: Patients with elevated miR-134 circulating levels were at higher risk of drug-resistant epilepsy (OR [95% CI] = 2.246 [1.111–4.539], p = 0.021). Other risk factors included an older age (OR [95% CI] = 1.032 [1.004–1.061], p = 0.025), history of febrile seizures (OR [95% CI] = 2.994 [1.385–6.471], p = 0.005) and higher disease duration (OR [95% CI] = 1.038 [1.011–1.066], p = 0.006). The strongest predictor of DRE was hippocampal sclerosis (OR [95% CI] = 10.338 [4.566–23.404], p < 0.001). Circulating miR-134 levels were significantly higher in MTLE-HS patients compared to controls (p < 0.05) and GGE patients (p < 0.05). However, the clinical utility of miR-134 in discriminating MTLE-HS patients from controls was only moderated (AUC = 0.651 ± 0.051 95% CI 0.551–0.751, p = 0.007). Conclusion: We show that miR-134 circulating levels are associated with DRE, especially in MTLE-HS, a syndrome characterized by severe hippocampal damage, consistent with activity-regulated miR-134 expression. This overexpression likely contributes to disease progression and our results support the potential of targeting miR-134 as a novel therapeutic approach for refractory epilepsy.
- Evaluation of the cyto- and genotoxicity of two types of cellulose nanomaterials using human intestinal cells and in vitro digestion simulationPublication . Vital, Nádia; Cardoso, Maria; Kranendonk, Michel; Silva, Maria Joao; Louro, HenriquetaEmerging cellulose nanomaterials (CNMs) may have commercial impacts in multiple sectors, being their application particularly explored in the food sector. Thus, their potential adverse effects in the gastrointestinal tract should be evaluated before marketing. This work aimed to assess the safety of two CNMs (CNF–TEMPO and CMF–ENZ) through the investigation of their cytotoxicity, genotoxicity (comet and micronucleus assays), and capacity to induce reactive oxygen species in human intestinal cells, and their mutagenic effect using the Hprt gene mutation assay. Each toxicity endpoint was analysed after cells exposure to a concentration-range of each CNM or to its digested product, obtained by the application of a standardized static in vitro digestion method. The results showed an absence of cytotoxic effects in intestinal cells, up to the highest concentration tested (200 µg/mL or 25 µg/mL, for non-digested and digested CNMs, respectively). Of note, the cytotoxicity of the digestion control limited the top concentration of digested samples (25 µg/mL) for subsequent assays. Application of a battery of in vitro assays showed that CNF–TEMPO and CMF–ENZ do not induce gene mutations or aneugenic/clastogenic effects. However, due to the observed DNA damage induction, a genotoxic potential cannot be excluded, even though in vitro digestion seems to attenuate the effect. The lowest digested CNF–TEMPO concentration induced chromosomal damage in Caco-2 cells, leading to an equivocal outcome. Ongoing research on epigenotoxic effects of these CNMs samples may strengthen the lines of evidence on their safety when ingested, paving the way for their innovative application in the food industry.