SAT0501 Influence of MEFV Gene Mutations and R202Q Polymorphism on Inflammatory Clinical Manifestations and Oxidative Stress

2015 ◽  
Vol 74 (Suppl 2) ◽  
pp. 841.3-842
Author(s):  
D.S. Lazarevic ◽  
J. Radovic ◽  
M. Debeljak ◽  
N. Toplak ◽  
T. Avcin ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Mefv Gene ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
And Oxidative Stress

scholarly journals Distribution of MEFV gene mutations and R202Q polymorphism in the Serbian population and their influence on oxidative stress and clinical manifestations of inflammation

2016 ◽  
Vol 14 (1) ◽  
Author(s):  
Jelena Milenković ◽  
Jelena Vojinović ◽  
Maruša Debeljak ◽  
Nataša Toplak ◽  
Dragana Lazarević ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Mefv Gene ◽  
Clinical Manifestations ◽  
Gene Mutations

scholarly journals ALOX5 , LPA , MMP9 and TPO gene polymorphisms increase atherothrombosis susceptibility in middle-aged Mexicans

2020 ◽  
Vol 7 (1) ◽  
pp. 190775
Author(s):  
Rafael Camacho-Mejorado ◽  
Rocío Gómez ◽  
Luisa E. Torres-Sánchez ◽  
Esther Alhelí Hernández-Tobías ◽  
Gino Noris ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Native Americans ◽  
Gene Polymorphisms ◽  
Clinical Manifestations ◽  
Cross Sectional Study ◽  
Middle Aged ◽  
Cross Sectional ◽  
Healthy Group ◽  
And Gender ◽  
And Oxidative Stress

Atherothrombosis is the cornerstone of cardiovascular diseases and the primary cause of death worldwide. Genetic contribution to disturbances in lipid metabolism, coagulation, inflammation and oxidative stress increase the susceptibility to its development and progression. Given its multifactorial nature, the multiloci studies have been proposed as potential predictors of susceptibility. A cross-sectional study was conducted to explore the contribution of nine genes involved in oxidative stress, inflammatory and thrombotic processes in 204 subjects with atherothrombosis matched by age and gender with a healthy group ( n = 204). To evaluate the possibility of spurious associations owing to the Mexican population genetic heterogeneity as well as its ancestral origins, 300 unrelated mestizo individuals and 329 Native Americans were also included. ALOX5 , LPA , MMP9 and TPO gene polymorphisms, as well as their multiallelic combinations, were twice to four times more frequent in those individuals with clinical manifestations of atherothrombosis than in the healthy group. Once adjusting for population stratification was done, these differences remained. Our results add further evidence on the contribution of ALOX5 , LPA , MMP9 and TPO polymorphisms to atherothrombosis development in the middle-aged group, emphasizing the multiethnic studies in search of gene risk polymorphisms.

HFE Gene Mutations and Oxidative Stress Influence Serum Ferritin, Associated with Vascular Damage, in Hemodialysis Patients

2007 ◽  
Vol 27 (1) ◽  
pp. 101-107 ◽  
Author(s):  
Luca Valenti ◽  
Gianfranco Valenti ◽  
Giovanna Como ◽  
Larry Burdick ◽  
Gennaro Santorelli ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Serum Ferritin ◽  
Gene Mutations ◽  
Hemodialysis Patients ◽  
Vascular Damage ◽  
And Oxidative Stress ◽  
I Gene ◽  
Stress Influence

scholarly journals Endothelial Dysfunction, Inflammation, and Oxidative Stress in COVID-19—Mechanisms and Therapeutic Targets

2021 ◽  
Vol 2021 ◽  
pp. 1-15
Author(s):  
Adriana Fodor ◽  
Brandusa Tiperciuc ◽  
Cezar Login ◽  
Olga H. Orasan ◽  
Andrada L. Lazar ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Respiratory Failure ◽  
Endothelial Dysfunction ◽  
Clinical Manifestations ◽  
Therapeutic Targets ◽  
Lung Damage ◽  
Wide Range ◽  
Underlying Mechanisms ◽  
And Oxidative Stress

The outbreak of the COVID-19 pandemic represents an ongoing healthcare emergency responsible for more than 3.4 million deaths worldwide. COVID-19 is the disease caused by SARS-CoV-2, a virus that targets not only the lungs but also the cardiovascular system. COVID-19 can manifest with a wide range of clinical manifestations, from mild symptoms to severe forms of the disease, characterized by respiratory failure due to severe alveolar damage. Several studies investigated the underlying mechanisms of the severe lung damage associated with SARS-CoV-2 infection and revealed that the respiratory failure associated with COVID-19 is the consequence not only of acute respiratory distress syndrome but also of macro- and microvascular involvement. New observations show that COVID-19 is an endothelial disease, and the consequent endotheliopathy is responsible for inflammation, cytokine storm, oxidative stress, and coagulopathy. In this review, we show the central role of endothelial dysfunction, inflammation, and oxidative stress in the COVID-19 pathogenesis and present the therapeutic targets deriving from this endotheliopathy.

scholarly journals Indicators of antioxidant status and oxidative stress in opisthorchiasis

2021 ◽  
pp. 62-67
Author(s):  
V. V. Tsukanov ◽  
E. G. Gorchilova ◽  
J. L. Tonkikh ◽  
A. V. Vasyutin ◽  
O. S. Rzhavicheva ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Superoxide Dismutase ◽  
Liver Fibrosis ◽  
Ultrasound Examination ◽  
Clinical Manifestations ◽  
Opisthorchis Felineus ◽  
Abdominal Organs ◽  
The Right ◽  
And Oxidative Stress

Introduction. The  course of  opisthorchiasis is accompanied by clinically diverse symptoms and severe complications up to the development of cholangiocarcinoma. The role of oxidative stress in the development of liver fibrosis is not well understood. Aim. To determine the association of clinical manifestations and indicators of oxidative stress in the blood with liver fibrosis in patients with Opisthorchis felineus invasion.Materials and methods. We examined 103 patients with chronic opisthorchiasis and 51 practically healthy patients. All patients underwent general clinical examinations, esophagogastroduodenoscopy and ultrasound examination of the abdominal organs, elastometry to assess liver fibrosis using the METAVIR system, and the content of malondialdehyde, catalase and superoxide dismutase in blood serum was determined by the immunoassay method.Results and discussion. Asthenic-vegetative syndrome, pain in the right hypochondrium, articular syndrome, cytolytic and cholestatic syndromes, hepatomegaly and signs of  chronic cholecystitis were more often detected in  patients with invasion of  Opisthorchis felineus and liver fibrosis F3-F4  according to METAVIR. The  content of  malondialdehyde in  the  blood was 296.5 ng/ml in patients with liver fibrosis F3-F4 according to METAVIR and 69.5 ng/ml in patients with liver fibrosis F0-F1 according to METAVIR (p < 0.001). The content of superoxide dismutase and catalase did not differ significantly in the groups of patients with liver fibrosis F0-F1  according to METAVIR and F3-F4  according to METAVIR, which indicated insufficient effectiveness of antioxidant protection.Conclusion. The revealed changes indicate the presence in patients with opisthorchiasis of a pronounced association between the severity of the clinical course, the development of biochemical cytolysis syndromes and the severity of liver fibrosis and oxidative stress, which may be a promoter of inflammation, cell DNA damage and carcinogenesis. 

MEFV Gene-Related Enterocolitis Account for Some Cases Diagnosed as Inflammatory Bowel Disease Unclassified

Digestion ◽  
2019 ◽  
Vol 101 (6) ◽  
pp. 785-793 ◽  
Author(s):  
Daisuke Saito ◽  
Noritaka Hibi ◽  
Ryo Ozaki ◽  
Oki Kikuchi ◽  
Taro Sato ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Gene Mutation ◽  
Bowel Disease ◽  
Periodic Fever ◽  
Mefv Gene ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
University Hospital ◽  
Mucosal Inflammation ◽  
Inflammatory Bowel

<b><i>Background and Aims:</i></b> Familial mediterranean fever (FMF), an autoinflammatory disease, is characterized by periodic fever and serositis. An <i>MEFV</i> gene mutation has been identified as the cause of FMF. Recently, patients with MEFV gene mutations and chronic gastrointestinal mucosal inflammation mimicking inflammatory bowel disease (IBD) have been reported. In this retrospective study, we analyzed the clinical characteristics of patients with IBD unclassified (IBDU) with <i>MEFV</i> gene mutations. <b><i>Methods:</i></b> <i>MEFV</i> gene analysis was performed on 8 patients with IBDU among 710 patients with IBD who had been treated at Kyorin University Hospital from April 2016 to December 2018. Clinical manifestations, endoscopic findings, and serological markers were also analyzed. <b><i>Results:</i></b> The average of the 8 patients with IBDU (3 men, 5 women) was 32.7 ± 6.4 years (range 26–76 years). Their symptoms comprised diarrhea (<i>n</i> = 8, 100%), hematochezia (<i>n</i> = 3, 37.5%), abdominal pain (<i>n</i> = 3, 37.5%), high fever (<i>n</i> = 2, 16.5%), and other periodic symptoms (<i>n</i> = 2, 16.5%). <i>MEFV</i> gene mutation was confirmed in 4/8 of these patients. Colonoscopy showed various mucosal lesions, rectal sparing, right side dominant colitis, pseudopolyposis, and granular protrusions. Colchicine was administered to 5 of the 8 patients (4 with and 1 without <i>MEFV</i> mutation) who were resistant to conventional treatment for ulcerative colitis. Clinical and endoscopic improvement was observed in all of 5 patients treated with colchicine. <b><i>Conclusions:</i></b> Some patients diagnosed as having IBDU have enterocolitis related to MEFV gene mutation and respond to colchicine therapy.

scholarly journals Idiopathic CRMO and MEFV Gene Variant Alleles: Is There Any Relationship?

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Farhad Salehzadeh ◽  
Hassan Anari ◽  
Sepehr Sarkhanloo
Keyword(s):  
Age Of Onset ◽  
Mefv Gene ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Bone Lesions ◽  
Gene Variant ◽  
Intermittent Fever ◽  
Pathogenic Variants ◽  
Long Duration ◽  
Variant Alleles

Background and Objective. CRMO is an inflammatory disease of bone that occurs more often in children. The clinical manifestations are intermittent fever, pain, and bone lesions, especially in long bones. Although there is an idiopathic type of disease, it is usually associated with some autoimmune disorders. This study evaluates MEFV gene mutations as background pathology of idiopathic CRMO. Methods. Blood samples of patients, who diagnosed as childhood idiopathic CRMO by imaging and pathologic study from June 2011 until September 2018, have been screened for the 12 common pathogenic variants of MEFV gene mutations. Result. Nine patients enrolled in this study, and eight of them were male. The most common involvement locations were tibia and femur, and the least ones were zygoma, calcaneus, and radius. The mean duration of the involvement was 1.3 years. Six patients had only 1 involved location, 2 patients showed two sites of involvement, and one patient had three affected areas. There were two positive MEFV gene mutations (22%), as E148Q/wt and K695R/wt both in the heterozygote form. There was no meaningful relationship between MEFV gene mutations and the age of onset, gender, and location of involvement. Patients with positive mutation had more involved sites and long duration of involvement significantly. Conclusion. There is no significant immunopathogenic relationship between the common MEFV gene variant alleles and CRMO disease.

Association between calcitriol and paricalcitol with oxidative stress in patients with hemodialysis

2020 ◽  
pp. 1-8
Author(s):  
Hasan Haci Yeter ◽  
Berfu Korucu ◽  
Elif Burcu Bali ◽  
Ulver Derici
Keyword(s):  
Oxidative Stress ◽  
Vitamin D ◽  
Antioxidant Status ◽  
Total Antioxidant Status ◽  
Stress Index ◽  
Total Oxidant Status ◽  
Vitamin D Analog ◽  
Total Antioxidant ◽  
Oxidant Status ◽  
And Oxidative Stress

Abstract. Background: The pathophysiological basis of chronic kidney disease and its complications, including cardiovascular disease, are associated with chronic inflammation and oxidative stress. We investigated the effects of active vitamin D (calcitriol) and synthetic vitamin D analog (paricalcitol) on oxidative stress in hemodialysis patients. Methods: This cross-sectional study was composed of 83 patients with a minimum hemodialysis vintage of one year. Patients with a history of any infection, malignancy, and chronic inflammatory disease were excluded. Oxidative markers (total oxidant and antioxidant status) and inflammation markers (C-reactive protein and interleukin-6) were analyzed. Results: A total of 47% (39/83) patients were using active or analog vitamin D. Total antioxidant status was significantly higher in patients with using active or analog vitamin D than those who did not use (p = 0.006). Whereas, total oxidant status and oxidative stress index were significantly higher in patients with not using vitamin D when compared with the patients who were using vitamin D preparation (p = 0.005 and p = 0.004, respectively). On the other hand, total antioxidant status, total oxidant status, and oxidative stress index were similar between patients who used active vitamin D or vitamin D analog (p = 0.6; p = 0.4 and p = 0.7, respectively). Conclusion: The use of active or selective vitamin D analog in these patients decreases total oxidant status and increases total antioxidant status. Also, paricalcitol is as effective as calcitriol in decreasing total oxidant status and increasing total antioxidant status in patients with chronic kidney disease.

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