http://hdl.handle.net/10400.18/89 2013-05-20T12:31:24Z 2013-05-20T12:31:24Z Cardoso, I. Alarcão, V. Simões, R. Guerra, F. Pinto, A. Nicola, P. Fernandes, M. Guiomar, S. Rocha, E. http://hdl.handle.net/10400.18/1518 2013-03-18T17:16:24Z 2012-09-01T00:00:00Z

Title: Are Diet-related Factors Associated with Differences in Mean Arterial Pressure Among Portuguese Natives and African Migrants? A Study with Medicated Hypertensive Patients followed at Lisbon Primary Health Care Centres Authors: Cardoso, I.; Alarcão, V.; Simões, R.; Guerra, F.; Pinto, A.; Nicola, P.; Fernandes, M.; Guiomar, S.; Rocha, E.

2012-09-01T00:00:00Z Guerra, F. Pinto, A. Violeta, A. Cardoso, I. Fernandes, M. Guiomar, S. Nicola, P. Rocha, E. http://hdl.handle.net/10400.18/1514 2013-03-18T16:36:11Z 2012-04-01T00:00:00Z

Title: Haverá diferenças no tipo de alimentos ricos em sódio e no nível de sódio consumido por hipertensos mediados, imigrantes e não imigrantes, seguidos nos cuidados de Saúde Primários da região de Lisboa? Authors: Guerra, F.; Pinto, A.; Violeta, A.; Cardoso, I.; Fernandes, M.; Guiomar, S.; Nicola, P.; Rocha, E.

2012-04-01T00:00:00Z Martins, Luisa Lourenco, Rita Fraga, Ana Beatriz Goncalves, Juan Anselmo, Joao Medeiros, Ana Bourbon, Mafalda Cesar, Rui Pereira Duarte, Carlos http://hdl.handle.net/10400.18/1459 2013-02-20T16:58:47Z 2012-10-01T00:00:00Z

Title: Hipercolesterolémia Familiar: Em Cada Amostra Sanguínea Uma Oportunidade Diagnóstica Authors: Martins, Luisa; Lourenco, Rita; Fraga, Ana Beatriz; Goncalves, Juan; Anselmo, Joao; Medeiros, Ana; Bourbon, Mafalda; Cesar, Rui; Pereira Duarte, Carlos Abstract: Introdução: A Hipercolesterolémia Familiar (HF) e uma doença hereditária autossómica dominante com uma incidência estimada de 1:500 na sua forma heterozigótica. Caracteriza-se pela existência de níveis de colesterol muito elevados, habitualmente superiores a 300 mg/dl, e que são evidentes desde os primeiros dias de vida. A ausência de um programa de rastreio universal faz do diagnóstico precoce um desafio sobretudo durante a idade pediátrica. O presente trabalho integra-se no Estudo Português de Hipercolesterolémia Familiar e tem como objectivo caracterizar do ponto de vista clinico, laboratorial e genético uma família com HF. Caso clinico: Jovem do sexo masculino de 19 anos seguido em consulta de endocrinologia pediátrica desde os 13 anos por apresentar, em avaliação laboratorial de rotina, colesterol total de 319 mg/ dL. Historia familiar de hipercolesterolemia (colesterol acima de 290 mg/dL) em cinco familiares em primeiro grau, com manifestações clinicas como arco corneano, xantelasmas e ainda morte prematura por enfarte agudo do miocárdio aos 51 anos (avo materna). O estudo genético identificou uma mutação heterozigótica C371X do gene que codifica o receptor LDL (RLDL) no caso index e familiares directos. Trata-se de uma mutação “nonsense” descrita pela primeira vez na população portuguesa e que condiciona uma redução de 50% no número de receptores de LDL (Haploinsuficiência). Conclusão: Nas idades pediátricas, face a ausência de sinais clínicos, a história familiar e o doseamento oportunístico do colesterol sérico, isto e em amostras colhidas por outras razoes, assumem-se como as duas abordagens fundamentais no diagnóstico de HF. As medidas dietéticas e a promoção de estilos de vida saudáveis são as intervenções de primeira linha que devem ser reforçadas perante a confirmação de HF em idade pediátrica. As terapêuticas farmacológicas são ainda tema de discussão na comunidade cientifica, com resultados dispares relativamente a segurança (risco-beneficio) da sua utilização em crianças pre-puberes.

2012-10-01T00:00:00Z C. Crespo, Ângela Marques, Liliana Marcelino, Erica Maruta, Carolina Costa, Sónia Timóteo, Ângela Vilares, Arminda Silva, Bruno Simões Couto, Frederico Faustino, Paula Correia, Ana Paula Verdelho, Ana Porto, Graça Guerreiro, Manuela Herrero, Ana Costa, Cristina de Mendonça, Alexandre Costa, Luciana Martins, Madalena http://hdl.handle.net/10400.18/1323 2013-02-12T19:14:29Z 2012-06-01T00:00:00Z

Title: Iron/copper metabolism in Alzheimer’s disease: genetics and biomarkers in a Portuguese population Authors: C. Crespo, Ângela; Marques, Liliana; Marcelino, Erica; Maruta, Carolina; Costa, Sónia; Timóteo, Ângela; Vilares, Arminda; Silva, Bruno; Simões Couto, Frederico; Faustino, Paula; Correia, Ana Paula; Verdelho, Ana; Porto, Graça; Guerreiro, Manuela; Herrero, Ana; Costa, Cristina; de Mendonça, Alexandre; Costa, Luciana; Martins, Madalena Abstract: The distinction between normal aging and Alzheimer's disease (AD) is a relevant step to combat this disease efficiently. Thus, the identification of biomarkers and genetic factors underlying AD pathology is extremely important. Oxidative injury in the brain, mediated by the imbalance of redox-active metals as iron (Fe) and copper (Cu) has been recognized to contribute to the pathology of AD. In this context, we further investigated this hypothesis by: (I) comparing serum biochemical markers of Fe/Cu metabolism in a sample of 117 AD patients and 91 healthy controls; (II) testing in the same sample a set of Fe/Cu metabolism-related genes and APOE for association with AD. Genetic analysis was performed through high density SNP genotyping of the candidate genes CP, CYBRD1, HAMP, HFE, IREB1, IREB2, SLC11A2, SLC40A1, TF, TFR2, FB19, CALR, and APOE. Biochemical analysis was assessed for: serum Fe, transferrin, transferrin saturation and serum ferritin levels. The most significant difference was found between AD patients and controls for serum Fe concentration (76.63 ± 26.36 μg/dL and 86.67 ± 25.18 μg/dL, respectively, P=0.003), although other significant differences were also found for transferrin and ferritin levels (P=0.016 and P=0.033, respectively). Significant associations with AD were found for two SNPs in TF (P=0.0147 and P=0.0415), one SNP in TFR2 (P=0.0055) and for the first time in IREB1 (P=0.0258) and SLC40A1 (P=0.0210) genes. In addition to the significant independent effects, evidence for interaction between IREB1 and TFR2, CP, IREB2 and SLC40A1 markers was also found. The overall results suggest the involvement of these iron metabolism genes in Alzheimer etiology. APOE was also significantly associated with AD (P=0.0007), in agreement with previous studies. We hypothesize that the lower serum Fe concentration observed in AD patients can be due to impaired Fe excretion from cells, since Fpn codified by SLC40A1 is the only known Fe exporter in mammalian cells. Also, the TFR2 polymorphism found to be associated with AD is located at the putative promoter region of the TfR2_beta isoform which seems to be involved in SLC40A1 transcriptional regulation. On the other hand, IREB1 codifies a cytosolic protein which binds to iron-responsive elements (IREs) found in RNA from several iron metabolism-related proteins as ferritin, TfR, Fpn itself and importantly GEECD, Tomar, Portugal, Jun2012 APP. The intracellular accumulation of Fe, particularly in the brain where Fpn is also expressed, would lead to a rise in oxidative damage, contributing to the AD physiopathology. Further research is demanded in a greater sample to confirm the results obtained in this pilot study. Noteworthy, an integrative approach was followed to deal with heterogeneity in this complex disorder, and new directions were raised related to the study of Fe metabolism involvement in AD. Description: This work was supported by Fundação Astrazeneca through the “Programa de Apoio à Investigação” . Presented at the “International Conference in Alzheimer’s Disease 2009

2012-06-01T00:00:00Z