scholarly journals THE PARAMETERS OF LIVER FUNCTIONAL STATE AS A RISK FACTOR OF EDEMATOUS PANCREATITIS DEVELOPMENT PROVIDING OF GENETIC DETERMINATION OF IL-4 PRODUCTION

2019 ◽  
Vol 72 (4) ◽  
pp. 639-644
Author(s):  
Sergiy I. Ivashchuk ◽  
Larysa P. Sydorchuk

Introduction: One of the main pathophysiological mechanisms of acute pancreatitis development is the damage of pancreas cells and hepatocytes with enzymes activation. Recently, a powerful mechanism of the immune system involvement in the acute pancreatitis pathogenesis, in particular, from the position of genes polymorphism influence attracts more attention. The aim: To study the parameters of liver functional state as risk factors for the development of edematous pancreatitis under the conditions of genetic determination of IL-4 production. Materials and methods: The study involved 101 patients with acute and the exacerbation of chronic pancreatitis in whom the polymorphic variants of gene IL-4 (C-590T), the activity of ALT, AST, GGTP, LDG and bilirubin fractions levels were determined. Results: Among the patients with T-allele of IL-4 gene was more commonly encountered the excess of the activity of AST and ALT standarts than those with CC-genotype - by 27.94% and 24.33% respectively. The increase of the GGTP concentration was recorded in 79.21% of patients. The serum GGTP level was significantly higher in the TT-genotype owners than in those with C-allele. Hyperbilirubinemia by the total bilirubin, indirect and direct fractions was diagnosed more often in TT-genotype carriers than in CC-homozygotes. Conclusions: The dysfunction of hepatopancreatobiliary system is more significant in the TT-genotype carriers of IL-4 gene by the AST, ALT, bilirubin and its fractions high levels, however, were found to be risk factors the high levels of total bilirubin and its direct fraction.

2016 ◽  
Vol 23 (4) ◽  
pp. 2016422
Author(s):  
Sergei Ivashchuk ◽  
Larysa Sydorchuk

The occurrence of gene mutations affecting the formation of acute pancreatitis or exacerbation of chronic pancreatitis differs in different populations and ethnic groups.The objective of the research was to study the incidence of CFTR (rs 113 993 960), IL-4 (rs 2243250), PRSS1 (rs 111 033 565), SPINK1 (rs ID 6690) and TNF-α (rs 1800629) gene mutations in Northern Bukovyna region and their dependence on etiological factor, sex and type of pancreatitis.Material and methods. Determination of IL-4 (C-590T), TNF-α (G-308A), PRSS1 (R122H), SPINK1 (N34S) and CFTR (delF508) genes polymorphisms was performed in 123 patients with acute pancreatitis and the exacerbation of chronic pancreatitis and in 40 healthy individuals.Results. The relative incidence of PRSS1, CFTR, SPINK1 and TNF-α genes polymorphisms in patients with acute pancreatitis and the exacerbation of chronic pancreatitis did not significantly differ. Carriers of CC genotype of IL- 4 gene were present among the patients with acute pancreatitis and in the control group by 22.39% and 21.76% more often than among the patients with the exacerbation of chronic pancreatitis. Acute alcohol-related pancreatitis was observed in men significantly more often than gallstone pancreatitis, namely by 53.58% in carriers of “wild” GG-genotype of PRSS1 gene, by 29.64% in carriers of CC genotype of IL-4 gene, by 42.40% in carriers of NN-genotype of CFTR gene, and by 38.74% in carriers of GG-genotype of SPINK1 gene, respectively.Conclusions. The mutation of CFTR (rs 113 993 960), PRSS1 (rs 111 033 565), SPINK1 (rs ID6690) and TNF-α (rs1800629) gene in the homozygous state among the population of Northern Bukovyna was not detected. Acute alcohol-related pancreatitis was more often diagnosed in men in case of “wild” genotypes of PRSS1, CFTR and SPINK1 genes, whereas gallstone pancreatitis was more often diagnosed in women.


Neonatology ◽  
2021 ◽  
pp. 1-8
Author(s):  
Kasia Trzcionkowska ◽  
Floris Groenendaal ◽  
Peter Andriessen ◽  
Peter H. Dijk ◽  
Frank A.M. van den Dungen ◽  
...  

<b><i>Introduction:</i></b> Retinopathy of prematurity (ROP) remains an important cause for preventable blindness. Aside from gestational age (GA) and birth weight, risk factor assessment can be important for determination of infants at risk of (severe) ROP. <b><i>Methods:</i></b> Prospective, multivariable risk-analysis study (NEDROP-2) was conducted, including all infants born in 2017 in the Netherlands considered eligible for ROP screening by pediatricians. Ophthalmologists provided data of screened infants, which were combined with risk factors from the national perinatal database (Perined). Clinical data and potential risk factors were compared to the first national ROP inventory (NEDROP-1, 2009). During the second period, more strict risk factor-based screening inclusion criteria were applied. <b><i>Results:</i></b> Of 1,287 eligible infants, 933 (72.5%) were screened for ROP and matched with the Perined data. Any ROP was found in 264 infants (28.3% of screened population, 2009: 21.9%) and severe ROP (sROP) (stage ≥3) in 41 infants (4.4%, 2009: 2.1%). The risk for any ROP is decreased with a higher GA (odds ratio [OR] 0.59 and 95% confidence interval [CI] 0.54–0.66) and increased for small for GA (SGA) (1.73, 1.11–2.62), mechanical ventilation &#x3e;7 days (2.13, 1.35–3.37) and postnatal corticosteroids (2.57, 1.44–4.66). For sROP, significant factors were GA (OR 0.37 and CI 0.27–0.50), SGA (OR 5.65 and CI 2.17–14.92), postnatal corticosteroids (OR 3.81 and CI 1.72–8.40), and perforated necrotizing enterocolitis (OR 7.55 and CI 2.29–24.48). <b><i>Conclusion:</i></b> In the Netherlands, sROP was diagnosed more frequently since 2009. No new risk factors for ROP were determined in the present study, apart from those already included in the current screening guideline.


2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
Vitalina Bashynska ◽  
Alexander Koliada ◽  
Kateryna Murlanova ◽  
Oksana Zahorodnia ◽  
Yuliia Borysovych ◽  
...  

Tobacco smoking is known to be a strong risk factor for developing many diseases. The development and severity of smoking dependence results from interaction of environmental and lifestyle factors, psycho-emotional predispositions, and also from genetic susceptibility. In present study, we investigated polymorphic variants in genes contributed to nicotine dependence, as well as to increased impulsivity, known to be an important risk factor for substance use disorders, in Ukraine population. The genotype frequencies at CYP2A6, DNMT3B, DRD2, HTR2A, COMT, BDNF, GABRA2, CHRNA5, and DAT1 polymorphisms were determined in 171 Ukraine residents, and these data were compared with data for several other European populations and main ethnic groups. It has been found that genotype frequencies for all studied loci are in Hardy-Weinberg equilibrium in the Ukrainian population and correspond to the respective frequencies in European populations. These findings suggest a similar impact of these loci on nicotine dependence in Ukraine. Further studies with larger sample sizes are, however, needed to draw firm conclusions about the effect size of these polymorphisms.


2017 ◽  
Vol 14 (1) ◽  
pp. 24-32 ◽  
Author(s):  
V. K. Pozharishchenskaya ◽  
I. V. Davydova ◽  
K. V. Savostianov ◽  
L. S. Namazova-Baranova ◽  
E. B. Pavlinova ◽  
...  

Currently, researches are being actively carried out to identify genetic risk factors for the development of bronchopulmonary dysplasia (BPD) in premature infants, including genetic polymorphism encoding surfactants, matrix metalloproteinases, cytokines, growth factors, and components of the body’s antioxidant defence. The review presents the results of foreign and domestic genetic trials in this field aimed at predicting the possible formation of BLD in premature infants and providing a personalized approach to the management of such patients.


2020 ◽  
Author(s):  
Bingjun Yu ◽  
Wenhua He ◽  
Nonghua Lu

Abstract Background Acute kidney injury (AKI) is a serious complication of acute pancreatitis (AP) and causes a high risk of mortality. The aim of this study was to investigate the risk factors for AKI in patients in the early phase of AP.Methods In this retrospective observational study, 1655 AP patients were divided into an AKI and a non-AKI group. Age, sex, BMI, APACHE II score, smoking history, hypertriglyceridaemia (HTG), alcohol abuse, biliary disease, organ failure, pancreatic necrosis and necrosis debridement were collected from the hospital record database.Results 1036 males (62.6%) and 619 females (37.4%) were enrolled in this study. 1255 and 430 AP patients were included in the non-AKI and AKI groups, respectively. The mean age was 45.90±11.73 years. Hospital and intensive care unit (ICU) lengths of stay were 18.13±43.26 and 31.53±72.47 days, respectively. The incidence of organ failure and pancreatic necrosis were 25.0% and 32.2%, respectively. The morbidity of percutaneous catheter drainage (PCD) and operative necrosectomy (ON) was 10.9%, and the mortality among AP patients was 6.3%. HTG was identified as a risk factor for AKI in AP (P=0.001). The incidence of organ failure (P=0.001), pancreatic necrosis (P=0.001) and necrosis debridement were greater in the AKI group than those in the non-AKI group.Conclusions HTG is an independent risk factor for AKI in AP. AP patients with AKI have adverse outcomes such as high rates of organ failure, pancreatic necrosis, and necrosis debridement and longer hospital and ICU lengths of stay.


2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
E Muslimova ◽  
T Rebrova ◽  
S Akhmedov ◽  
S Afanasyev

Abstract Calsequestrin 2 protein binds most of Ca2+ ions inside the sarcoplasmic reticulum and is involved in the regulation of Ca2+ release through the ryanodine receptors of the cardiomyocytes. Due to mutations in the CASQ2 gene, there is an enhanced release of ions from the sarcoplasmic reticulum, which leads to disruption of Ca2+ homeostasis. In turn, this is a risk factor for the development and progression of chronic heart failure (CHF) and heart rhythm disturbances. Purpose Investigate the association between polymorphic variants rs6684209, rs7521023 of the CASQ2 gene and heart failure in patients with coronary artery disease (CAD). Methods The sample included 174 patients with CAD complicated by CHF. Of these, 115 (66.1%) are men and 59 (33.9%) are women aged 64 (59; 70) years. The functional class (FC) of CHF was defined according to the classification of the New York Heart Association (NYHA). The distribution of CHF FC I, FC II, FC III was 25 (14.4%), 97 (55.7%), 52 (29.9%). The left ventricular ejection fraction in the patient sample was 62% (52; 66). The polymorphic variants rs6684209 (115707991C>T in the intron) and rs7521023 (115700759G>A in 3-UTR) of the CASQ2 gene were determined by real-time polymerase chain reaction. For the analysis of the qualitative data, Pearson's χ2 test or the Fisher two-sided exact test was used. Results In the total sample of patients, there was no assotiation between the rs6684209 variant of the CASQ2 gene and the clinical picture of CHF. However, among men, but not women, differences in the frequency of FC I, II, III CHF (p=0.029) between CC, CT and TT genotypes were found. In addition, among carriers of the CT genotype, diastolic myocardial dysfunction occurred in 80% of patients, while among CC homozygotes, its frequency was 63.1% and was not observed in TT homozygotes (p=0.034). At the same time, there were more patients with heart rhythm disorders among CC homozygotes than among carriers of the T allele (60.8% vs. 45.2% for CT and 0% for TT, p=0.046). The association of the polymorphic variant rs7521023 with the course of CHF was assessed. A significant (p=0.044) increase in the frequency of left atrial enlargement in GG homozygotes (69.2%) compared with carriers of the AA (45.1%) and AG (41.9%) genotypes was found in the total sample of patients. Gender features were absent in the association of variant rs7521023 with risk factors for the development and progression of CHF. Conclusion The polymorphic variants rs6684209 and rs7521023 of the CASQ2 gene are associated with the severity of CHF and the risk of developing heart rhythm disturbances. With the CT genotype of the rs6684209 variant, diastolic myocardial dysfunction was more common, but the T allele appeared to be protective against the development of heart rhythm disturbances. Carrier genotype GG (rs7521023) is a risk factor for dilatation of the left atrium, which in turn can serve as a substrate for the development of arrhythmias. Acknowledgement/Funding This work was supported in part by the Russian Foundation for Basic Research, No. 17-04-01450 A.


1994 ◽  
Vol 40 (1) ◽  
pp. 18-23 ◽  
Author(s):  
H A Schwertner ◽  
W G Jackson ◽  
G Tolan

Abstract We examined serum bilirubin and various liver-function enzymes as possible risk factors for angiographically documented coronary artery disease (CAD). The studies involved a "training" set of 619 men for whom complete data on all risk factors considered were available, and a "test" set of 258 men for whom some risk factor data were not available. In both study groups, the liver enzymes were not related to CAD; however, In[total bilirubin] was inversely and statistically significantly related to the presence of CAD, both univariately and multivariately after adjustment for the established risk factors of age, total cholesterol, high-density lipoprotein cholesterol, smoking history, and systolic blood pressure. A 50% decrease in total bilirubin was associated with a 47% increase in the odds of being in a more severe CAD category. Our data suggest that serum bilirubin is an inverse and independent risk factor for CAD, with an association equivalent in degree to that of systolic blood pressure.


2016 ◽  
Vol 35 (3) ◽  
pp. 282-292 ◽  
Author(s):  
Aleksandra Klisic ◽  
Nebojsa Kavaric ◽  
Ivan Soldatovic ◽  
Bojko Bjelakovic ◽  
Jelena Kotur-Stevuljevic

Summary Background: Since the cardiovascular (CV) risk score in the young population, children and adolescents, is underestimated, especially in developing countries such as Montenegro, where a strong interaction exists between the genetically conditioned CV risk and environmental factors, the purpose of this study was to estimate CV risk in apparently healthy adolescent girls. Moreover, we aimed to test some new, emerging CV risk factors and their interaction with the traditional ones, such as obesity. Precisely, we aimed to assess the impact of low bilirubin levels, as a routine biochemical parameter, as an additional risk factor for atherosclerotic disease in the adult phase. Methods: Forty-five obese adolescent girls (mean age 17.8±1.22 years) and forty-five age-and sex-matched normal weight controls, all nonsmokers, were included. Anthropometric and biochemical parameters were measured. Cardiovascular Risk Score (CVRS) was calculated by adding the points for each risk factor (e.g. sex, HDL-c, non-HDLc, blood pressure and fasting glycemia). Results: A significant positive relationship between CVRS and ALT, hsCRP and TG/HDL-c, but an opposite relationship between CVRS and total bilirubin were found (P<0.001). Multiple linear regression analysis showed that higher waist circumference (WC) and LDL-c, but lower HDL-c were independent predictors of lower bilirubin values (adjusted R2=0.603, P<0.001). Conclusions: Obese adolescent girls are at an increased risk of cardiovascular disease late in life. In addition to the traditional risk factors, total bilirubin may have the potential to discriminate between low and higher risk for cardiovascular disturbances in healthy adolescent girls.


2019 ◽  
Vol 95 (7) ◽  
pp. 623-626
Author(s):  
Denis V. Loskutov ◽  
R. Ya. Khamitova

Review of the literature shows that currently there is an accumulation of data on the genetic determination of individual susceptibility to adverse industrial factors. Material of the research were high molecular DNA samples isolated from epithelial mouth scrapings in 99 foundry workers. Study of polymorphic variants of interleukin genes was performed by means of the analysis ofproducts of amplification of specific regions of the genome. Homozygous genotype TNF-a (-308A/G) was established to increase the relative risk of shaping of chronic respiratory diseases: with AA alleles - by 6.4 times and GG alleles - by 2.4 times, while the heterozygous genotype (AG) decreases - by 1. 9 times. Polymorphism of gene IL-1β (+3953 T / C) had no significance for the development of respiratory disease. Genotyping interleukins, involved in the inflammatory responses of the bronchopulmonary tract, can be considered as an element ofprimary prevention in industries with a high risk for shaping of respiratory diseases.


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