PAULO CALEB JUNIOR DE LIMA SANTOS

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LIM/13 - Laboratório de Genética e Cardiologia Molecular, Hospital das Clínicas, Faculdade de Medicina

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  • article 14 Citação(ões) na Scopus
    BDKRB2+9/-9 Polymorphism Is Associated with Higher Risk for Diabetes Mellitus in the Brazilian General Population
    (2012) ALVIM, Rafael de Oliveira; SANTOS, Paulo C. J. L.; NASCIMENTO, Raimundo M.; COELHO, George L. L. M.; MILL, Jose G.; KRIEGER, Jose E.; PEREIRA, Alexandre C.
    Some mechanisms have been proposed to explain the role of bradykinin on glucose homeostasis and some studies reported that the BDKRB2 +9/-9 polymorphism was associated to the transcriptional activity of the receptor. In this scenario, the main aim of this study was to evaluate the association of the BDKRB2 +9/-9 polymorphism with diabetes mellitus risk in the Brazilian general population. This study included 1,032 subjects of the general urban population. Anthropometrical, blood pressure, biochemical, and genotype analyses for the BDKRB2 +9/-9 bp insertion/deletion polymorphism were performed. Individuals carrying +9/+9 or +9/-9 genotypes had higher glucose values (84.5 mg/dL versus 80.6 mg/dL, resp.) and higher frequency of diabetes mellitus (7.6% versus 3.6%, resp.) compared to individuals carrying -9/-9, adjusting for age and gender. In addition, higher diabetes mellitus risk was associated to presence of the +9/+9 or +9/-9 genotypes (OR = 1.91; 95% CI = 1.09-4.19; P = 0.03). Our data suggest that the BDKRB2 +9/-9 polymorphism may act as a genetic modulator of glucose homeostasis. It was previously associated to insulin sensitivity, glucose uptake, and insulin secretion, and, in this study, data suggest that the polymorphism may increase susceptibility to chronic metabolic conditions such as diabetes in the Brazilian population.
  • article 39 Citação(ões) na Scopus
    Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype
    (2018) ADAMS, Paul; ALTES, Albert; BRISSOT, Pierre; BUTZECK, Barbara; CABANTCHIK, Ioav; CANCADO, Rodolfo; DISTANTE, Sonia; EVANS, Patricia; EVANS, Robert; GANZ, Tomas; GIRELLI, Domenico; HULTCRANTZ, Rolf; MCLAREN, Gordon; MARRIS, Ben; MILMAN, Nils; NEMETH, Elizabeta; NIELSEN, Peter; PINEAU, Brigitte; PIPERNO, Alberto; PORTO, Graca; PRINCE, Dianne; RYAN, John; SANCHEZ, Mayka; SANTOS, Paulo; SWINKELS, Dorine; TEIXEIRA, Emerencia; TOSKA, Ketil; VANCLOOSTER, Annick; WHITE, Desley
    Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p. Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training. This final version was approved at the Hemochromatosis International meeting on 12th May 2017 in Los Angeles.