Percorrer por autor "Pereira, A."
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- Addressing Critical Fungal Pathogens Under a One Health Perspective: Key Insights from the Portuguese Association of Medical MycologyPublication . Sabino, Raquel; Antunes, Francisco; Araujo, Ricardo; Bezerra, A. R.; Brandão, João; Carneiro, Carla; Carvalho, Agostinho; Carvalho, D.; Conceição, I.C.; Cota-Medeiros, Fábio; Cruz, C.; Duarte, Elsa Leclerc; Holum, S.; Matos, O.; Maltez, F.; Mendonça, Alexandre; Moura, G.; Pereira, A.; Fortuna R., Celia; Teixeira, Pedro; de Valdoleiros, Sofia R.; Verissímo, Cristina; Viegas, Carla; Portuguese Association of Medical Mycology (ASPOMM); CarneiroFungal infections have emerged as a significant public health concern, especially with the increasing incidence of severe mycoses caused by pathogens such as Aspergillus fumigatus, Candida auris, Candida albicans, and Cryptococcus neoformans. These fungi, listed as critical priorities by the World Health Organization, pose a heightened risk due to rising antifungal resistance and their severe impact on immunocompromised individuals. This article, coordinated by the Portuguese Association of Medical Mycology, highlights the importance of adopting a One Health perspective to address fungal threats comprehensively. Drawing on interdisciplinary collaboration, the association aims to foster greater awareness, improve diagnostic capabilities, and stimulate research and public health policies in Portugal but also at global level. The paper outlines key strategies for surveillance, prevention, and innovation in fungal diagnostics and therapeutics. Moreover, it emphasizes the urgent need for national coordination and international cooperation in managing fungal infections, advocating for integrative approaches that link human, animal, and environmental health. By presenting aconsolidated overview of current challenges and future priorities, this work seeks to enhance preparedness and response mechanisms in the face of escalating fungal threats.
- Composición genética de la Hipercolesterolemia Familiar en Argentina en relación a los países de la Red Iberoamericana de HFPublication . Bañares, V.G.; Alves, A.C.; Alonso, R.; Jannes, C.E.; Medeiros, A.M.; Corral, P.; DellOca, N.; Araujo, M.B.; Pereira, A.; Elikir, G.D.; Reyes, X.; Cuevas, A.; Vázquez Cárdenas, A.; Stoll, M.; Santos, R.; Mata, P.; Schreier, L.; Bourbon, MafaldaIntroducción: La Hipercolesterolemia Familiar (HF), de herencia codominante, lleva a la EC temprana debido a los niveles elevados de lipoproteínas de baja densidad (LDL) plasmáticas presentes desde el nacimiento. Funcionalmente el aclaramiento hepático de las LDL se ve disminuído. Se origina por mutaciones en los genes LDLR (94%), APOB (4%), PCSK9 (1%) generalmente y hay más de 1000 variantes patogénicas solo en el LDLR. Los países de iberoamerica (IBA) comparten orígenes y el estudio conjunto de las bases moleculares contribuirá al esclarecimiento de la relación fenotipo / genotipo y mejorará la prognosis de los pacientes, uno de los objetivos de la Red. En IBA se estiman 3 millones de HF que, detectados en forma temprana, podría prevenirse en ellos la EC.
- Genetic Analysis of Familial Hypercholesterolemia in Iberoamerican CountriesPublication . Chora, J.R.; Mata, P.; Santos, R.; Vázquez-Cárdenas, A.; Stoll, M.; Schreier, L.; Cuevas, A.; Alves, A.C.; Medeiros, A.M.; Perez Isla, L.; Jannes, C.; Pereira, A.; Dell'Oca, N.; Reyes, X.; Corral, P.; Bañares, V.; Magaña-Torres, T.; Aguilar-Salinas, C.; Alonso, R.; Bourbon, MafaldaThe Iberoamerican Familial Hypercholesterolemia network (IBAFH_N) was created in 2013 to promote awareness for Familial Hypercholesterolemia (FH) in these countries – Argentina, Brazil, Chile, Mexico, Portugal, Spain, Uruguay and more recently Colombia – that share a past and history. The aim of this work was to perform a molecular analysis of FH mutations in Iberoamerica.
- Human exposure to indoor radon: a survey in the region of GuardaPublication . Louro, Alina; Peralta, Luis; Soares, S.; Pereira, A.; Cunha, G.; Belchior, A.; Ferreira, L.; Monteiro Gil, O.; Louro, Henriqueta; Pinto, P.; Rodrigues, A.S.; Silva, Maria João; Teles, P.Radon ((222)Rn) is a radioactive gas, abundant in granitic areas, such as the city of Guarda at the northeast of Portugal. This gas is recognised as a carcinogenic agent, being appointed by the World Health Organization as the second leading cause of lung cancer after tobacco smoke. Therefore, the knowledge of radon concentrations inside the houses (where people stay longer) is important from the point of view of radiological protection. The main goal of this study was to assess the radon concentration in an area previously identified with a potentially high level of residential radon. The radon concentration was measured using CR-39 detectors, exposed for a period of 2 months in 185 dwellings in the Guarda region. The radon concentration in studied dwellings, ranged between 75 and 7640 Bq m(-3), with a geometric mean of 640 Bq m(-3) and an arithmetic mean of 1078 Bq m(-3). Based on a local winter-summer radon concentration variation model, these values would correspond to an annual average concentration of 860 Bq m(-3). Several factors contribute to this large dispersion, the main one being the exact location of housing construction in relation to the geochemical nature of the soil and others the predominant building material and ventilation. Based on the obtained results an average annual effective dose of 15 mSv y(-1) is estimated, well above the average previously estimated for Portugal.
- Using percentiles to diagnose familial hypercholesterolemia in PortugalPublication . Pereira, A.; Alves, A.C.; Medeiros, A.M.; Mariano, Cibelle; Bourbon, MafaldaAims: Familial hypercholesterolemia (FH) is a genetic disorder of lipid metabolism, clinically characterised by high levels of low-density lipoprotein cholesterol (LDL-C) that leads to cholesterol accumulation in tendons and arteries, premature atherosclerosis and increased risk of premature coronary heart disease. In 1999, the Portuguese FH Study was established at the National Institute of Health to identify the genetic cause of hypercholesterolemia in individuals with a clinical diagnosis of FH and to perform an epidemiologic study to determine the prevalence and distribution of FH in Portugal. In the last 16 years, a genetic defect was identified in 749 patients, representing 3. 7 % of the cases estimated to exist in Portugal. Index patients were included in this study using the Simon Broome (SB) criteria. However, there are different FH clinical criteria to diagnose index cases. Since there are no clinical criteria to identify relatives with FH, the aim of this work was to investigate if a diagnostic tool based on population specific 95 th percentile improves the clinical identification of Portuguese FH patients comparing with SB criteria.