PAULO DOMINGUEZ NASSER
Projetos de Pesquisa
Unidades Organizacionais
Instituto do Câncer do Estado de São Paulo, Hospital das Clínicas, Faculdade de Medicina
3 resultados
Resultados de Busca
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- A Fast and Cost-Effective Method for Identifying a Polymorphism of Interleukin 28B Related to Hepatitis C(2013) FERREIRA, Camila da Silva; ABREU, Rodrigo Martins; SILVA, Marlone Cunha da; FERREIRA, Aline Siqueira; NASSER, Paulo Dominguez; CARRILHO, Flair Jose; ONO, Suzane KiokoApproximately 170 million people are chronic carriers of hepatitis C virus (HCV). Patients with chronic hepatitis C are currently treated with pegylated interferon and ribavirin (PEG-IFN/RBV). A genome-wide association with PEG-IFN/RBV treatment response and a single nucleotide polymorphism (rs12979860) has been identified near the interleukin 28B gene that encodes interferon-lambda-3. In this paper, we describe an innovative, fast, and low-cost multiplex polymerase chain reaction with confronting two-pair primers that detects the rs12979860 polymorphism. The assay is internally controlled and does not require the use of restriction endonucleases or special equipment. Moreover, the assay decreases costs, being about 40% cheaper than direct sequencing methods.
- 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.
- Genetic Risk for Alcoholic Chronic Pancreatitis(2011) COSTA, Marianges Zadrozny Gouvea da; GUARITA, Dulce Reis; ONO-NITA, Suzane Kioko; PARANAGUA-VEZOZZO, Denise Cerqueira; FELGA, Guilherme Eduardo Goncalves; PEDROSO, Martha Regina Arcon; SOUZA, Marcelo Moreira Tavares de; NASSER, Paulo Dominguez; FERREIRA, Camila da Silva; CARRILHO, Flair JoseIn recent years many studies have examined the genetic predisposition to pancreatic diseases. Pancreatic disease of an alcoholic etiology was determined to be a multi-factorial disease, where environmental factors interact with the genetic profile of the individual. In this review we discuss the main results from studies examining the frequency of genetic mutations in alcoholic chronic pancreatitis.