PAULO CALEB JUNIOR DE LIMA SANTOS
Projetos de Pesquisa
Unidades Organizacionais
LIM/13 - Laboratório de Genética e Cardiologia Molecular, Hospital das Clínicas, Faculdade de Medicina
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- SNPs from BCHE and DRD3 genes associated to cocaine abuse amongst violent individuals from Sao Paulo, Brazil(2020) PEGO, A.M.F.; LEYTON, V.; MIZIARA, I.D.; BORTOLIN, R.H.; FREITAS, R.C.C.; HIRATA, M.; TOMAZ, P.R.X.; SANTOS, J.R.; SANTOS, P.C.J.L.; YONAMINE, M.Violence and drug abuse are highly destructive phenomena found world-wide, especially in Brazil. They seem to rise proportionally to one another and possibly related. Additionally, genetics may also play a role in drug abuse. This study has focused on identifying the use of cocaine within postmortem cases arriving at the Institute of Legal Medicine of Sao Paulo as well as the presence of certain single nucleotide polymorphisms (SNPs) to better understand one's susceptibility to abuse the drug. Both hair and blood samples have been extracted through a simple methanol overnight incubation or a rapid dilute-and-shoot method, respectively. The samples were then analyzed using an UPLC-ESI-MS/MS and genotyped through RT-PCR. Statistical analyses were performed via SPSS software. From 105 postmortem cases, 53% and 51% of the cases shown to be positive for cocaine in hair and blood, respectively. Genetic wise, a significant difference has been observed for SNP rs4263329 from the BCHE gene with higher frequencies of the genotypes A/G and G/G seen in cocaine users (OR = 8.91; 95%CI = 1.58–50.21; p = 0.01). Likewise, also SNP rs6280 from the DRD3 gene presented a significant association, with both genotypes T/C and C/C being more frequent in users (OR = 4.96; 95% CI = 1.07–23.02; p = 0.04). To conclude, a rather high proportion of cocaine has been found, which may suggest a connotation between the use of the drug and risky/violent behaviors. Additionally, significant associations were also found within two SNPs related to cocaine use, however, due to several inherent limitations, these must be confirmed. © 2020 Elsevier B.V.
- 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, DesleyAlthough 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.