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Clinical Practice
Number of Followers: 0  

  This is an Open Access Journal Open Access journal
ISSN (Print) 2220-3095
Published by Eco-Vector LLC Homepage  [15 journals]
  • NEXT GENERATION SEQUENCING HELPS IN DIFFERENTIAL DIAGNOSIS OF PATHOLOGICAL
           LEFT VENTRICULAR HYPERTROPHY IN ELITE ATHLETES

    • Authors: O S Chumakova, M Yu Isaeva, M I Abushenko, M V Vorobieva, L E Guseinova, R R Gasanova, G I Speshilov, A G Nikitin, A V Averyanov, D A Zateyshchikov
      Pages: 3 - 7
      Abstract: To detect the reason of left ventricular hypertrophy (LVH) may be difficult in some cases especially in elite athletes. Object. To evaluate the efficiency of next generation sequencing (NGS) genetic test in differential diagnostics of pathological LVH in elite athletes. Material and methods. Analysis of echocardiographic data from 791 elite athletes revealed 15 individuals with LVH > 12 mm (1,9%). Based on the criteria of abnormality (asymmetric, severe and changes on electrocardiogram) 5 (0,6%) athletes were selected for genetic test. TruSight Cardio panel (“Illumina”) was used to identify variants of 174 genes with known associations to inherited cardiac conditions. Results. In 3 out of 5 athletes the pathogenic variants in MBPC3 and LMNA genes previously associated with HCM and other CMs were found. One athlete with negative genetic test result had severe untreated arterial hypertension as a possible cause for LVH. The second athlete didn’t have LVH in magnetic resonance imaging. Conclusions. In elite athletes, the asymmetric LVH should be considered as pathological finding which requires comprehensive clinical evaluation and NGS genetic test.
      PubDate: 2017-12-15
      Issue No: Vol. 8, No. 4 (2017)
       
  • THE ROLE OF ABERRANT METHYLATED IN GENES APC, RASSF1A AND ITGA4 FOR
           DIAGNOSIS OF COLORECTAL CANCER

    • Authors: O I Brovkina, M G Gordiev, A N Toropovskiy, D S Khodyrev, Au Vyacheslavovich Nikitin, A V Averyanov
      Pages: 8 - 14
      Abstract: The “gold standard” of diagnosis of colorectal cancer (CRC) is a colonoscopy. Despite the high reliability, this method is not applicable in large-scale population screening or in estimation of the disease dynamics in a particular patient. In this study, we conducted an investigation of aberrant methylation in the APC, RASSF1A and ITGA4 genes. The study included 150 pairs of tumor tissue samples with known mutation status of the RAS family genes and the surrounding histologically unchanged tissue of patients with rectal adenocarcinoma treated at the Republican Clinical Oncology Dispensary of the Ministry of Health of the Republic of Tatarstan. The methylation profiles were studied using MethyLight PCR. The most difference in the methylation between tumor and healthy tissue was observed for the ITGA4 gene (sensitivity 78%, specificity 92.7%). For the APC gene sensitivity was 32%, specificity -93.3%, for the RASSF1 gene sensitivity was 85.3%, specificity - 56.7%. Previous data on the aberrant methylation of the SEPT9 and VIM genes and new data on the APC, RASSF1A and ITGA4 genes were compared with the mutations status in the KRAS and NRAS genes. The DNA of tumor samples was significantly more often methylated in the SEPT9 (P= 0.0018) and ITGA4 (P = 0.0044) genes in the group of patients carrying mutations in the KRAS or NRAS genes, in contrast to the DNA of tumor samples of non-carriers. In statistical analysis of the effectiveness of the diagnostic test system, it was shown that our model, which includes five methylation markers (APC, RASSF1A, ITGA4, SEPT9 and VIM), has the best sensitivity and specificity (82.7% and 97.3%, respectively). The obtained model of the diagnostic test system is proposed to be used for diagnostic problems.
      PubDate: 2017-12-15
      Issue No: Vol. 8, No. 4 (2017)
       
  • STAGED TREATMENT OF BILATERAL AORTOILIAC LESIONS

    • Authors: R I Khabazov, A V Amirova, N Sh Amirov, E R Lysenko, A S Azaryan, A M Troitsky
      Pages: 15 - 21
      Abstract: Background: The aim of the study was to find out optimal treatment of bilateral aortoiliac atherosclerotic lesions. Materials and Methods: From January 2000 to December 2013 38 patients with bilateral aortoiliac lesions underwent surgical repair. One side was treated with linear aortofemoral bypass surgery, another - with endovascular approach and stent placement. Moreover, in 25 cases surgical repair was performed simultaneously in aortoiliac and infrainguinal vascular beds. The results of the interventions were monitored with intraoperative angiography and duplex ultrasound before discharge, at 3, 6 and every next 6 months afterwards. Results: Assisted patency at the 3 year after treatment was 65% for bypass surgery and 100% for stents. This approach demonstrates good results in the treatment of bilateral lesions, combining advantages of open surgical and endovascular treatment strategies. Staged approach allows to repair multisegmentional vascular lesions. Conclusion: Staged treatment of bilateral aortoiliac lesions is a well-established method of surgical repair, allowing to treat high-risk patients, including patients with multisegmentional lesions of peripheral arteries.
      PubDate: 2017-12-15
      Issue No: Vol. 8, No. 4 (2017)
       
 
 
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