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Ms Shirakdehi, M Rezaei, E Nadi, H Mahjoub, Mt Goodarzi,
Volume 8, Issue 1 (spring[PERSIAN] 2014)
Abstract

Abstract Background and Objective: Oxidant-antioxidant imbalance plays a key role in pathogenesis of chronic obstructive pulmonary disease (COPD). This study aimed to evaluate homocystiene and total antioxidant capacity in COPD patients, compared to smoker and non-smoker healthy people. Material and Methods: We measured total antioxidant capacity with Cayman Kit, uric acid with Pars Azmoon kit٫ homocysteine with ELISA Kit and inflammatory cells (leukocytes) in 29 COPD patients, 29 smokers and 29 non-smokers. Results: Uric acid was significantly higher in COPD patients compared to healthy smokers and healthy non-smokers (p<0.05). Total antioxidant capacity was significantly lower in COPD patients compared to healthy, non smokers (p=0. 003). In COPD patients, homocysteine and leukocytes levels were significantly higher than those in healthy smokers (P<0.05) and healthy non- smokers (p<0.001). Conclusion: According to high inflammatory cells and low antioxidant capacity in COPD, early administration of appropriate medication is recommended to reduce systemic and topical inflammation. Reduction in the exposure to oxidizing compounds can slow the process of degradation and damage to lungs. Keywords: Chronic Obstructive Pulmonary Disease Homocysteine Oxidative Stress
Fatemeh Asadi, Hamedreza Goodarzi, Javad Zahiri, Mojtaba Jafarinia,
Volume 16, Issue 1 (Jan-Feb 2022)
Abstract

Coma is a state of prolonged unconsciousness. Some coma cases result from inherited disorders such as fatty-acid β-oxidation disorder, acute intermittent porphyria (due to mutations in genes CPT I, CPTII and ACADM), urea cycle defects (due to mutation in OTC gene), organic acidurias, mitochondrial diseases and familial hemiplegic migraine (due to mutations in CACNA1A, ATP1A2 and SCN1A). The evaluation of familial cases of coma or sporadic coma can be performed using next generation sequencing (NGS), a high-throughput  sequencing technique that can sequence an entire genome in a single reaction. This technique has been widely applied in the genetic diagnosis of diseases. In this review, we describe some genes associated with coma or recurrent coma and discuss the role of NGS in detection of these genes.  

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