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The clinico-paraclinical status and genetic polymorphism of chronic pancreatitis


Author: Bugai Rodica
Degree:doctor of medicine
Speciality: 14.00.05 - Internal Diseases (with specification: Pulmonology, Gastroenterology, Hepatology, Nephrology, Functional Diagnostics and Endoscopy)
Year:2017
Scientific adviser: Ion Ţîbîrnă
doctor habilitat, professor, Nicolae Testemitanu State University of Medicine and Pharmacy of the Republic of Moldova
Scientific consultant: Nicolae Barbacar
doctor habilitat, professor, Institute of Genetics, Physiology and Plant Protection of the ASM
Institution: Nicolae Testemitanu State University of Medicine and Pharmacy of the Republic of Moldova

Status

The thesis was presented on the 29 March, 2017
Approved by NCAA on the 31 May, 2017

Abstract

Adobe PDF document – 1.08 Mb / in romanian

Thesis

CZU 616.37-056.7-07

Adobe PDF document 4.26 Mb / in romanian
171 pages

Keywords

chronic pancreatitis, oxidative stress, genetic polymorphism

Summary

Thesis structure: introduction, 4 chapters, conclusions and practical recommendations, bibliographic index-239 sources. The thesis is displayed on 168 printed pages, basic material - on the 140 pages. Iconographic materials include 45 figures, 52 tables. The obtained results are published in 50 scientific works, including: 19 articles (11 as sole author), 31 summaries; 42 presentations at national and international scientific events, of which 17 are oral presentations and 25 posters; 4 innovations.

Field of study: Internal Diseases (Gastroenterology)

Purpose of the study: The assessment of clinical, paraclinical, and genetic particularities of various clinical forms of chronic pancreatitis (CP), with the purpose of highlighting diagnostic and risk markers of the pancreatic disease.

Objectives of the thesis: the evaluation of etiologic factors of different clinical forms of CP, with the estimation of frequency and polymorphism of genes involved in CP; the assessment of clinical and paraclinical aspects and changes in the lipid peroxidation and antioxidant activity, in dependence of the polymorphism of the studied genes involved in the development of different clinical forms of СP, with the determination of some diagnostic and prognostic criteria of CP.

The scientific novelty and the originality consists in the premiere study, in the heterogenous population of Republic of Moldova (RM), of the incidence and polymorphism of some genes involved in CP in patients with different clinical forms of CP, and healthy persons (R122C/PRSS1, N34S/SPINK1, R117H/CFTR), in the context of interactions with other environmental and endogenous risk factors, and of the lipid peroxidation and antioxidant activity parameters in the hexane and isopropanolic phases. The degree of clinical and paraclinical manifestations was assessed for different forms of CP in dependence of oxidative stress parameters and the polymorphism of studied genes. The correlation between the oxidative stress index values and clinico-anamnestenic parameters values was assessed. The study has determined the degrees of the genetic and non-genetic factor interaction as prognostic criteria of СP installation.

The scientific problem solved in this study consists in the estimation of clinical and paraclinical particularities and risk factors associated with different clinical forms of CP, with the emphasis, in the heterogeneous population of RM, on hereditary-genetic factors in the multifactorial pathogenesis of CP and their association. The results are useful in the early diagnosis of the persons hereditarily susceptible to CP, in the identification and exclusion of non-genetic risk factors, in order to prevent, minimize complications and optimize the treatment of CP.

The theoretical significance consists in the evaluation of genetic and non-genetic risk factors and their interaction in the development of different clinical forms of CP in the population of RM, which allows for the creation of diagnosis and prognosis criteria in the development of this pancreatic disease.

The applicable value of the work: timely identification of multiple genetic and non-genetic risk factors can provide potential tools for assessing the risk of CP development, diagnosis, evolution and early treatment of CP.

The implementation of scientific results was done in the teaching and learning process of the Internal Medicine Discipline in the Department of Internal Medicine at the “Nicolae Testemițanu” SUMF and MCH ,,Sf. Arh. Mihail” in Chișinău.