Abstract:
OBJECTIVE:To determine the prevalence of the most common allelic variants of CYP1A1, CYP1A2, CYP1B1, CYP2C9, CYP2E1, CYP2F1, CYP2J2 and CYP2S1 in a representative sample of the three ethnic groups (Russians, Tatars and Bashkirs) from Republic of Bashkortostan (Russia), and compare the results with existing data published for other populations. MATERIAL AND METHODS:CYPs genotypes were determined in 742 DNA samples of healthy unrelated individuals representative of three ethnic groups. The CYPs gene polymorphisms were examined using the PCR-RLFP method. RESULTS:Analysis of the CYP1A1 (rs1048943, rs4646903), CYP1A2 (rs762551), CYP2E1 (rs2031920) allele, genotype and haplotype frequencies revealed significant differences among healthy residents of the Republic of Bashkortostan of different ethnicities. Distribution of allele and genotype frequencies of CYP1A2 (rs35694136), CYP1B1 (rs1056836), CYP2C9 (rs1799853, rs1057910), CYP2F1 (rs11399890), CYP2J2 (rs890293), CYP2S1 (rs34971233, rs338583) genes were similar in Russians, Tatars, and Bashkirs. Analysis of the CYPs genes allele frequency distribution patterns among the ethnic groups from the Republic of Bashkortostan in comparison with the different populations worldwide was conducted. CONCLUSION:The peculiarities of the allele frequency distribution of CYPs genes in the ethnic groups of the Republic of Bashkortostan should be taken into consideration in association and pharmacogenetic studies. The results of the present investigation will be of great help in elucidating the genetic background of drug response, susceptibility to cancer and complex diseases, as well as in determining the toxic potentials of environmental pollutants in our region.
journal_name
Balkan Med Jjournal_title
Balkan medical journalauthors
Korytina G,Kochetova O,Akhmadishina L,Viktorova E,Victorova Tdoi
10.5152/balkanmedj.2012.039subject
Has Abstractpub_date
2012-09-01 00:00:00pages
252-60issue
3eissn
2146-3123issn
2146-3131pii
bmj-29-3-252journal_volume
29pub_type
杂志文章abstract:BACKGROUND:Electrophysiological studies show that critical illness polyneuromyopathy appears in the early stage of sepsis before the manifestation of clinical findings. The metabolic response observed during sepsis causes glutamine to become a relative essential amino acid. AIMS:We aimed to assess the changes in neuro...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2016.140483
更新日期:2016-05-01 00:00:00
abstract:BACKGROUND:Chronic kidney diseases are known to influence nitric oxide metabolites (NOx) and asymmetric dimethylarginine (ADMA), though the exact mechanism is still poorly understood. AIMS:The purpose of the present study was to examine eNOS Glu298Asp gene polymorphism, plasma NOx and ADMA concentration in subjects wi...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2016.16566
更新日期:2016-03-01 00:00:00
abstract:Background:Perception of acoustic details in the speech signal is important for speech sound development. The medial olivocochlear pathway, a part of the auditory efferent system, plays a role in stimulus-related control of the cochlea. One clinical tool to evaluate medial olivocohlear activity, which is thought to imp...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.galenos.2020.2020.4.168
更新日期:2020-12-07 00:00:00
abstract:Background:Pericardial effusion in chronic hypoxemic lung diseases, such as Obstructive Sleep Apnea syndrome, usually occurs after the development of severe pulmonary arterial hypertension. However, data about the frequency of pericardial effusions in Obstructive Sleep Apnea syndrome without pulmonary arterial hyperten...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.2017.0580
更新日期:2018-05-29 00:00:00
abstract:INTRODUCTION:Pulmonary sarcomatoid carcinomas are very rare lung neoplasms, and no consensus exists regarding the optimal treatment. The prognosis of sarcomatoid carcinomas has been reported to be unfavorable compared to non-small-cell lung cancers; however, prognostic factors in patients undergoing surgery for sarcoma...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.galenos.2020.2020.7.45
更新日期:2020-09-29 00:00:00
abstract::Aneurysms of the azygos vein are rare and can sometimes mimic a paratracheal or posterior mediastinal mass. It is important to confirm the diagnosis with radiologic tools before performing invasive procedures, which carry the risk of hemorrhage. Here, we present a case in a 79-year-old asymptomatic patient of an incre...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2012.095
更新日期:2013-03-01 00:00:00
abstract::Definitive radiotherapy plays a major role in the treatment of locally advanced non-small cell lung cancer (LA NSCLC). After the impact of RT dose for lung cancer was established, a number of trials were structured with the aim of better local control and overall survival by either dose escalation or shortening the to...
journal_title:Balkan medical journal
pub_type: 杂志文章,评审
doi:10.5152/balkanmedj.2014.14496
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND:Presacral teratomas are usually observed in the first two decades of life and have a 50-67% incidence of malignant transformation. Surgery is the treatment of choice. CASE REPORT:Here, we report the case of 24-year-old female with chronic urinary retention after surgery for a presacral teratoma. CONCLUSION...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2014.9449
更新日期:2014-03-01 00:00:00
abstract:BACKGROUND:Many studies focusing on the effects of local anaesthetics on QT intervals have been performed, but the articles evaluating the relationship between thoracic epidural anaesthesia combined with general anaesthesia and QT parameters are very limited. AIMS:We aimed to compare the effects of bupivacaine and rop...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2013.9275
更新日期:2013-12-01 00:00:00
abstract:BACKGROUND:Environmental habitat may play a role in clinical disparities of primary hyperparathyroidism (pHPT) patients. AIMS:To compare preoperative clinical symptoms and associated conditions and surgical findings in patients with pHPT, living in different geographical regions from the Black Sea, Mediterranean and A...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.2015.0865
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVE:We investigated whether determination IL-6, IL-8, IL-1beta and TNF-alpha at baseline, total protein C (PC) levels at time of admission and 48 hours after initiation could complement the Acute Physiology and Chronic Health Evaluation (APACHE) II scoring system to identify patients with sepsis, severe sepsis or...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2011.016
更新日期:2012-06-01 00:00:00
abstract:OBJECTIVE:Obstructive sleep apnea syndrome (OSAS) is associated with increased cardiovascular morbidity and mortality. We aimed to investigate the matrix metalloproteinase-9 (MMP-9) level and MMP-9 gene polymorphism in sleep apnea patients with or without cardiovascular disease. STUDY DESIGN:Case-control study. MATER...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2012.068
更新日期:2013-03-01 00:00:00
abstract::A 59-year old patient was admited to the Gastroenterology Clinic with the signs of gastrointestinal bleeding. Computerized tomography (CT) and a barium-meal radiography revealed a circumferential nodular wall narrowing and incomplete stricture at the D2 part of the duodenum. CT also showed a poorly demarcated mass in ...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2012.076
更新日期:2012-12-01 00:00:00
abstract:BACKGROUND:Continuous ambulatory peritoneal dialysis is a successful treatment modality for patients with end-stage renal disease. Peritoneal fibrosis (PF) is the most critical complication of long-term peritoneal dialysis (PD). AIMS:In our study, we aimed to compare the effects of colchicine and sirolimus on PF induc...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2015.15183
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Apigenin is a plant-derived compound belonging to the flavone class, which possess antioxidant, free-radical-scavenging and anti-inflammatory properties. AIMS:To address the effects of apigenin on serum anti-mullerian hormone levels, tissue oxidative stress parameters and histopathological changes in ovaria...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.2016.1386
更新日期:2017-09-29 00:00:00
abstract:BACKGROUND:Implant-based breast reconstruction after mastectomy has recently been reported to be the preferred type of surgery among breast-specific surgeons and plastic surgeons. AIMS:To explore the significant clinicopathological factors associated with long-term outcome related to local recurrences of the nipple am...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.2017.0029
更新日期:2018-01-20 00:00:00
abstract:BACKGROUND:The increases of free radicals have been proposed to be involved in the pathogenesis of sepsis, which leads to multiple-organ dysfunction syndromes. The uses of antioxidants as a complementary tool in the medical care of oxidative stress-related diseases have attracted attention of researchers. Resveratrol (...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2016.15516
更新日期:2016-11-01 00:00:00
abstract:BACKGROUND:Bloodstream infections (BSI) are frequently seen after solid organ transplantation. The incidence of bloodstream infections differs among the types of transplantation. The microbiological features and antimicrobial resistance patterns change from centre to centre. AIMS:To evaluate the incidence and spectrum...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2013.9256
更新日期:2013-09-01 00:00:00
abstract:BACKGROUND:Family history of premature atherosclerosis imposes a high risk to people. The relationship between atherosclerosis and gene polymorphisms of various biomarkers such as Endothelial Nitric Oxide Synthase (eNOS), C-Reactive Protein (CRP), and Interleukin-6 (IL-6) has shown in previous studies. AIMS:The major ...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2015.151190
更新日期:2015-10-01 00:00:00
abstract:BACKGROUND:Incarcerated inguinal hernia is a commonly encountered urgent surgical condition, and tension-free repair is a well-established method for the treatment of non-complicated cases. However, due to the risk of prosthetic material-related infections, the use of mesh in the repair of strangulated or incarcerated ...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2016.150137
更新日期:2016-07-01 00:00:00
abstract:OBJECTIVE:The aim of the study was to determine the effect of massage to the sacral region after cesarean delivery instead of employing a urinary catheter for the prevention of urinary retention. STUDY DESIGN:Cross sectional study. MATERIAL AND METHODS:This interventional study population consisted of 60 women who we...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2012.083
更新日期:2013-03-01 00:00:00
abstract:OBJECTIVE:We aimed to determine the safety and feasibility of general anaesthesia (GA) compared with local anaesthesia + Monitored Anaesthesia Care (LA+MAC) for One-Day Thyroid Surgery (ODTS); to assess patient and operator satisfaction with either of the anesthetic approaches. MATERIAL AND METHODS:We reviewed prospec...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2012.006
更新日期:2012-06-01 00:00:00
abstract::Morphologically congenital sensorineural hearing loss can be investigated under two categories. The majority of congenital hearing loss causes (80%) are membranous malformations. Here, the pathology involves inner ear hair cells. There is no gross bony abnormality and, therefore, in these cases high-resolution compute...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.2017.0367
更新日期:2017-09-29 00:00:00
abstract:Background:There is only limited information about the cost-effectiveness of drug-eluting stents compared with bare-metal stents in Turkey. Aims:To evaluate bare-metal and drug-eluting stents used in the treatment of coronary artery disease from the perspective of the reimbursement institution with cost-effectiveness ...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.galenos.2019.2018.12.28
更新日期:2019-08-22 00:00:00
abstract:BACKGROUND:The present study proposes to analyze the results obtained after transhiatal esophagectomies (THE), from the perspective of an Eastern European surgical center with low esophageal resection volume (LV). AIMS:Our analysis, which to the authors' knowledge is the first of its kind in Romania, has the purpose o...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2015.15514
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:In order to determine the presence or absence of a certain disease, multiple diagnostic tests may be necessary. Performance of these tests can be sequentially evaluated. AIMS:The aim of the study is to determine the contribution of the test in each step, in reducing diagnostic uncertainty when multiple test...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2012.103
更新日期:2013-06-01 00:00:00
abstract:BACKGROUND:Young maternal age is variously defined in studies of its effect on obstetrics and perinatal outcomes. Also, pregnancy has been reported as the leading cause of death in adolescent girls in low- and middle-income countries. AIMS:The aim of the study was to evaluate whether young maternal age was associated ...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2015.150364
更新日期:2016-05-01 00:00:00
abstract:BACKGROUND:In Bulgaria, more than 20 autochthonous human parasitic infections have been described and some of them are widespread. Over 50 imported protozoan and helminthic infections represent diagnostic and therapeutic challenges and pose epidemiological risks due to the possibility of local transmission. AIMS:To es...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.2017.0167
更新日期:2018-01-20 00:00:00
abstract:BACKGROUND:Tissue Doppler imaging (TDI) is a method that determines the tissue motion and velocity within the myocardium. AIMS:To characterize acute haemodialysis (HD)-induced changes in TDI-derived indices for patients that have end-stage renal disease (ESRD). STUDY DESIGN:Cross sectional study. METHODS:Conventiona...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2014.13170
更新日期:2014-09-01 00:00:00
abstract:Background:Langerhans cell histiocytosis is characterized by an abnormal proliferation of neoplastic Langerhans cells. Langerhans cell histiocytosis commonly affects the pediatric population, whereas presentation in adults remains a rare event. The presentation of Langerhans cell histiocytosis is highly variable, but t...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.2017.1730
更新日期:2018-11-15 00:00:00