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Influência da genética do metabolismo do ferro nos fenótipos bioquímicos e hema...

Bicho, Manuel; Aguiar, Laura; Matias, Ana; Santos, Mafalda; Barbosa, Mário; Melício, Ana; Menezes Falcão, Luiz; Faustino, Paula; Inácio, Ângela

Introdução: A insuficiência cardíaca (IC) é uma síndrome que se caracteriza pela incapacidade do coração bombear sangue de forma eficiente para atender às necessidades metabólicas do organismo humano. Esta patologia multifatorial, frequentemente associada a deficiência de ferro e anemia, pode ser influenciada por diversos moduladores, entre estes, genes responsáveis pelo equilíbrio do metabolismo do ferro. Obje...


Study of the contribution of modulators of iron homeostasis in heart failure

Matias, Ana; Santos, Mafalda; Aguia, Laura; Mascarenhas, Mário Rui; Barbosa, Mário; Melício, Ana; Menezes Falcão, Luiz; Faustino, Paula; Manuel, Bicho

Introduction: Heart failure (HF) is considered one of the biggest public health problems, affecting 2% of the world's population. Is defined as a clinical syndrome due to a structural and/or functional abnormality of the heart that results in elevated intracardiac pressures and/or inadequate cardiac output at rest and/or during exercise. It can be influenced by several genetic modulators, in particular genes re...


Estudo da interação entre moduladores da homeostasia do ferro e o gene ECA na i...

Gaspar, Marcos A.; Aguiar, Laura; Ferreira, Joana; Faustino, Paula; Mascarenhas, Mário Rui; Menezes Falcão, Luís; Bicho, Manuel; Inácio, Ângela

Introdução: A insuficiência cardíaca (IC) diz respeito a um síndrome clínico composto por um conjunto de sintomas e/ou sinais com origem numa anomalia cardíaca estrutural e/ou funcional e que dá origem à inabilidade de bombear sangue em quantidade suficiente, de forma a preencher as necessidades metabólicas do organismo. No presente trabalho, pretendemos perceber como a interação entre a variação I/D no gene EC...


Study of the interaction between modulators of iron homeostasis and the ACE gen...

Gaspar, Marcos A.; Aguiar, Laura; Ferreira, Joana; Faustino, Paula; Mascarenhas, Mário Rui; Menezes Falcão, Luiz; Bicho, Manuel; Inácio, Ângela

Introduction: Heart failure (HF) refers to a clinical syndrome composed of a set of symptoms and/or signs that originate from a structural and/or functional cardiac anomaly and that give rise to the inability to pump blood in sufficient quantity, to meet the body's metabolic needs. In the present work, we intend to understand how the interaction between the I/D variation in the ACE gene and possible modulators ...


Osteoporosis after menopause: interaction between genes related to iron metabol...

Aguiar, Laura; Ferreira, Joana; Binda Pereira, Raquel; Barbosa, Ana Paula; Mascarenhas, Mário Rui; Faustino, Paula; Inácio, Ângela; Bicho, Manuel

Introduction: Osteoporosis is a common metabolic bone disease characterized by reduced bone mass and increased risk of fragility fractures. The pathogenesis of this disease is complex and influenced by multiple risk factors, where genetic factors play an important role. Menopause predisposes women to osteoporosis due to declining estrogen levels. Osteoporosis and iron metabolism have an important relationship. ...


Differences in the genotype frequencies of genes related to blood pressure regu...

Aguiar, Laura; Semente, Ildegário; Ferreira, Joana; Carvalho, Andreia; Silva, Alda P.; Caroça, Cristina; Caria, Helena; Damasceno, Albertino

Background: Since the emergence of the genus Homo, hominids have occupied a wide variety of environments, facing different selective pressures. Objectives: The aim this study is to compare genotype frequencies between South-West Europe and Peri-equatorial Africa in genes potentially modulators of blood pressure. Methods: The analyzed sample consisted of 325 individuals from Portugal and 226 individuals from Afr...


Contribution of HFE and HPSE genes and methaemoglobin reductase activity to hea...

Gaspar, Marcos A.; Aguiar, Laura; Ferreira, Joana; Faustino, Paula; Mascarenhas, Mário Rui; Menezes Falcão, Luiz; Bicho, Manuel; Inácio, Ângela

Introduction: Heart failure can be defined as a syndrome caused by a structural anomaly and/or by a committed cardiac function, which leads to an inadequate cardiac output unable to meet the metabolic necessities of the organism. We aim to understand if HFE and HPSE genes as well as methaemoglobin reductase activity, may influence the development of heart failure. Methodology: It was performed a case-control st...


Differences in the genotype frequencies of genes related to blood pressure regu...

Aguiar, Laura; Semente, Ildegário; Ferreira, Joana; Carvalho, Andreia; Silva, Alda P.; Caroça, Cristina; Caria, Helena; Damasceno, Albertino

Background: Since the emergence of the genus Homo, hominids have occupied a wide variety of environments, facing different selective pressures. Objectives: The aim this study is to compare genotype frequencies between South-West Europe and Peri-equatorial Africa in genes potentially modulators of blood pressure. Methods: The analyzed sample consisted of 325 individuals from Portugal and 226 individuals from Afr...


Interplay between glycemia and the genetics of eNOS and ACE for the susceptibil...

Aguiar, Laura; Ferreira, Joana; Matos, Andreia; Mascarenhas, Mário Rui; Menezes Falcão, Luiz; Faustino, Paula; Bicho, Manuel; Inácio, Ângela

Hypertension is a multifactorial condition of genetic and environmental nature. In Portugal the mean prevalence of hypertension in the population is 45.5%. The aim of this study is to evaluate the contribution of anthropometric, physiological and genetic factors (eNOS and ACE) to the development of hypertension in a Portuguese population. A case-control study was conducted in a sample of 377 individuals, 243 hy...


Interplay between glycemia and the genetics of ENOS and ACE genes for the susce...

Aguiar, Laura; Ferreira, Joana; Matos, Andreia; Mascarenhas, Mário Rui; Menezes Falcão, Luiz; Faustino, Paula; Bicho, Manuel; Inácio, Ângela

Introduction: Hypertension is a multifactorial condition of anthropometric, physiologic, metabolic, genetic, and environmental nature. In Portugal, the mean prevalence of hypertension in the population is 45.5%. Objective: The aim of this study is to evaluate the contribution of anthropometric, physiological, and genetic factors (eNOS and ACE) to the development of hypertension in a Portuguese population. Metho...


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