Publications by authors named "Dulce Reis Guarita"
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.
Pancreas
October 2016
Article Synopsis
- The study explored the link between chronic pancreatitis and factors like smoking and genetic mutations among different groups of people.
- Results indicated that a significant majority (91.4%) of patients with alcoholic pancreatitis were smokers, compared to 73.3% of those without pancreatic disease.
- The N34S mutation of the SPINK1 gene was more common in chronic pancreatitis patients, suggesting a correlation between this mutation and the disease, while other mutations had less clear associations.
Article Synopsis
- Recent studies focus on the genetic factors linked to pancreatic diseases, especially in relation to alcohol consumption.
- The development of alcoholic pancreatitis is influenced by both environmental factors and individual genetic profiles.
- This review highlights key findings on the prevalence of genetic mutations associated with alcoholic chronic pancreatitis.
Context: Alcoholism may interfere with nutritional status, but reports are often troubled by uncertainties about ingested diet and organ function, as well as by ongoing abuse and associated conditions.
Objective: To identify nutritional and body compartment changes in stable alcoholics without confounding clinical and dietetic variables, a prospective observational pilot study was designed. Three well-matched populations were considered: subjects with chronic alcoholic pancreatitis, alcoholics without visceral disease, and healthy never-drinking adults (controls).
Introduction: Pancreas susceptibility to alcohol is variable and only 5-10% of chronic alcohol abusers develop chronic pancreatitis; the role of genetic factors in this process is unknown. The CFTR gene encodes a protein that acts on epithelial cells and plays a key role in normal exocrine pancreatic function.
Methods: This study investigated the frequency of polymorphisms in intron 8 of the CFTR gene in patients with alcoholic chronic pancreatitis.
Context: Mutations in cystic fibrosis transmembrane conductance regulator (CFTR), in cationic trypsinogen (PRSS1) and in serine protease inhibitor Kazal type 1 (SPINK1) genes have been associated with chronic pancreatitis (alcohol related, idiopathic and hereditary). However, the inheritance pattern is still not clear.
Patients: Eighty-two unrelated Brazilian patients with chronic pancreatitis (alcohol-related disease in 64, idiopathic disease in 16, and hereditary disease in 2).