PAULO DOMINGUEZ NASSER
Projetos de Pesquisa
Unidades Organizacionais
Instituto do Câncer do Estado de São Paulo, Hospital das Clínicas, Faculdade de Medicina
2 resultados
Resultados de Busca
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- UGT1A1*28 relationship with abnormal total bilirubin levels in chronic hepatitis C patients Outcomes from a case-control study(2017) SOUZA, Marcelo Moreira Tavares de; VAISBERG, Victor Van; ABREU, Rodrigo Martins; FERREIRA, Aline Siqueira; DASILVAFERREIRA, Camila; NASSER, Paulo Dominguez; PASCHOALE, Helena Scavone; CARRILHO, Flair Jose; ONO, Suzane KiokoGilbert syndrome (GS) is a frequent benign clinical condition, marked by intermittent unconjugated hyperbilirubinemia, mostly due to the polymorphism uridine diphosphate-glucuronosyltransferase 1A1* 28 (UGT1A1* 28). Hyperbilirubinemia has been reported in a GS patient undergoing hepatitis C treatment, and other UGT isoforms polymorphisms have been linked to worse outcomes in viral hepatitis. Yet, little is known to GS contributions' to the liver disease scenario. Our aim was to assess UGT1A1 genotypes' frequency in chronic hepatitis C (CHC) patients and correlate with total bilirubin (TB). This is a case-control study in a large tertiary medical center. Cases were CHC patients confirmed by hepatitis C virus (HCV)-polymerase chain reaction. Exclusion criteria were hepatitis B virus or human immunodeficiency virus (HIV) coinfection. Control were healthy blood donors. UGT1A1 promoter region gene genotyping was performed, and bilirubin serum levels were available for HCV patients. Genotypes and alleles frequencies were similar in case (n= 585; P= 0.101) and control groups (n= 313; P= 0.795). Total bilirubin increase was noticed according to thymine-adenine repeats in genotypes (P < 0.001), and the TB greater than 1mg/dL group had more UGT1A1* 28 subjects than in the group with TB values < 1mg/dL (18.3 vs 5.3; P < 0.001). Bilirubin levels are linked to the studied polymorphisms, and this is the first time that these findings are reported in a chronic liver disease sample. Among patients with increased TB levels, the frequency of UGT1A1* 28 is higher than those with normal TB. Personalized care should be considered to GS, regarding either abnormal bilirubin levels or drug metabolism.
- Frequency of Tabagism and N34S and P55S Mutations of Serine Peptidase Inhibitor, Kazal Type 1 (SPINK1) and R254W Mutation of Chymotrypsin C (CTRC) in Patients With Chronic Pancreatitis and Controls(2016) COSTA, Marianges Zadrozny Gouvea da; PIRES, Julia Gloria Lucatelli; NASSER, Paulo Dominguez; FERREIRA, Camila da Silva; TEIXEIRA, Ana Cristina de Sa; PARANAGUA-VEZOZZO, Denise Cerqueira; GUARITA, Dulce Reis; CARRILHO, Flair Jose; ONO, Suzane KiokoObjective: This study aimed to investigate the association between chronic pancreatitis and smoking or genetic mutations. Methods: The study sample comprised 148 patients with chronic pancreatitis, 110 chronic alcoholic subjects without pancreatic disease, and 297 volunteer blood donors. Results: Of the patients with chronic pancreatitis, 74% had alcoholic etiology and 26% had idiopathic pancreatitis. The frequency of smoking was 91.4% in patients with alcoholic pancreatitis, higher than 73.3% in alcoholic subjects without pancreatitis (P < 0.01). The difference in smoking frequency was not significant between the patients with idiopathic pancreatitis and blood donors. The N34S mutation of serine peptidase inhibitor, Kazal type 1 (SPINK1) was found in 2.7% of patients with chronic alcoholic pancreatitis, in 5.3% of patients with idiopathic pancreatitis, and in 0.4% of blood donors (P = 0.02). The P55S mutation of SPINK1 was found in 2.7% of patients with alcoholic pancreatitis and in 0.7% of blood donors (P = 0.12). The R254W mutation of chymotrypsin C was found in 0.9% of patients with alcoholic pancreatitis, in 0.9% of chronic alcoholic subjects without pancreatitis, and in 0.4% of blood donors (P = 0.75). In all cases, the mutations were heterozygous. Conclusions: Smoking and the N34S mutation of SPINK1 were positively correlated with chronic pancreatitis.