Vol 8, No 4 (2017)
- Year: 2017
- Published: 15.12.2017
- Articles: 13
- URL: https://journals.eco-vector.com/clinpractice/issue/view/547
Articles
NEXT GENERATION SEQUENCING HELPS IN DIFFERENTIAL DIAGNOSIS OF PATHOLOGICAL LEFT VENTRICULAR HYPERTROPHY IN ELITE ATHLETES
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.
Journal of Clinical Practice. 2017;8(4):3-7
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THE ROLE OF ABERRANT METHYLATED IN GENES APC, RASSF1A AND ITGA4 FOR DIAGNOSIS OF COLORECTAL CANCER
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.
Journal of Clinical Practice. 2017;8(4):8-14
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STAGED TREATMENT OF BILATERAL AORTOILIAC LESIONS
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.
Journal of Clinical Practice. 2017;8(4):15-21
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THE CORRELATION BETWEEN THE PARAMETERS OF PERIPHERAL BLOOD AND OXYGEN ABSORPTION AFTER REVASCULARIZATION FOR CORONARY ARTERY DISEASE
Abstract
Patients with coronary artery disease (CAD) are characterized by changes in the oxygen uptake and indices of peripheral blood. The aim of the study was to identify the relationship between the parameters of blood oxygen uptake and blood test in patients with CAD following coronary artery bypass graft surgery. We examined 8 patients with acute coronary syndrome (ACS) and 11 patients with chronic CAD (cCAD) at days of admission to hospital, discharge and 6 months after a CABG procedure. 10 healthy donors were included to the control group. We conducted a comparative analysis of the parameters of peripheral blood and blood oxygen uptake. We revealed a negative correlation between parameters of oxygen uptake and the platelets in patients with ACS and blood count of neutrophils in patients with cCAD on the admission to hospital. Also we established a strong relationship between blood oxygen uptake and white blood cells count in patients with cCAD at the discharge from hospital. We found a strong positive correlation between blood oxygen absorption and platelets and a negative correlation with count of lymphocytes in patients with cCAD 6 months after surgery.
Journal of Clinical Practice. 2017;8(4):22-27
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POSTOPERATIVE STERNOMEDIASTINITIS SURGICAL TACTICS
Abstract
The analysis of treatment of patients with postoperative sternomediastinitis after cardiosurgical interventions is carried out. The tactics and technique of conducting these patients as well as the technical methods of performing the operation are described. Greater omentum was used as a plastic material.
Journal of Clinical Practice. 2017;8(4):29-32
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IMPROVEMENT OF DIAGNOSTIC ALGORITHMS FOR LIVER, PANCREAS AND BILE DUCTS WITH THE USE OF MULTIPARAMETRIC ELASTOGRAPHY
Abstract
Aim: to improve diagnostic algorithms for liver, pancreas and bile ducts with the use of multiparametric elastography (MPE). Methods: From 2013 to 2017 in “Clinical hospital №1” were examined 387 patients with liver disease (n=180), diseases of the pancreas (n=127), diseases of the bile ducts (n=80). With the aim of improvement of the algorithms of surveys were conducted MPE: transient, compression elastography, shear wave elastography, compression elastography with endosonography. Results. It defined in terms of dynamic observation of the MPE. Additional conducting of any type of elastography with already-chosen option, and the obtained result is not reasonable: negative correla tion (r from -0,017 to -0,095). The MPE with diffuse liver diseases has greatest value in the dynamic observation of patients: AUC = 0,991 (95%, 0,944-0,997) and in focal liver disease (AUC = 0,991 (95%, 0,944-0,997), compared with its implementation at admission (AUC = 0,702 (95%, 0,602-7,443). Shear wave elastography and the comprassion elastography with endosonography, particularly in the definition of “zone of interest” for subsequent morphological studies, with the aim of diagnosis: AUC = 0,907 (95% CI 0,889 - 0,933), and AUC = 0,903 (95% CI 0,875 - 0,921), respectively. Conclusions. MPE was the most valuable in the dynamic observation of patients with diffuse liver diseases (AUC = 0,991 (95% CI 0,944-0,997), focal pathology (AUC = 0,991 (95% CI 0,944-0,997)). Biopsy remains the main method for primary diagnosis: AUC = 0,999 (95% CI: 0,901-1,000).
Journal of Clinical Practice. 2017;8(4):33-38
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EVALUATION OF INFLUENCE OF THE ATYPICAL MICROFLORA ON DEVELOPMENT OF PATHOLOGY OF RESPIRATORY TRACTS IN CHILDREN
Abstract
The results of original researches executed for revealing the influence of atypical microflora (C. pneumonia, M. pneumoniae, Herpes simplex virus, Cytomegalovirus, Epstein-Barr virus) on allergic and nonallergic respiratory disease at 697 children of school age are presented. The obtained data allow to recommend more active use of drugs influencing on atypical flora for the choice of anti-infectious therapy at children of school age with allergic and frequent infectious diseases.
Journal of Clinical Practice. 2017;8(4):39-43
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POPULATION AND CLINICAL ASPECTS OF PARKINSON’S DISEASE AMONG RESIDENTS OF THE ROSTOV REGION
Abstract
The results of a prospective study based on data from a questionnaire and clinical monitoring of 694 patients with Parkinson’s disease living in the Rostov region are presented. The average age of patients was 70.4 ± 9.5 years, the average age of motor debut was 64.1 ± 9.8 years, the age of motor debut up to 45 years was set at 4.0%, the prevalence of Parkinson’s disease was 22, 2 per 100 000, the incidence of Parkinson’s disease - 1.0 per 100 000, the gender composition (men/women) - 38.3% / 61.7%. The age distribution among patients with Parkinson’s disease was as follows: younger than 60 - 15.3%, 61-70 years - 28.7%, 71-80 years - 44.8%, age over 80 years - 11.2%. Gender differences, as well as differences in the side of motor debut among BP patients under 45 years, are not established. The defeat of the right upper limb predominates among patients with motor debut above the age of 45. The early motor debut of Parkinson’s disease is a prognostic adverse factor in achieving a severe stage of Parkinson’s disease in a short time. The duration of the disease after motor debut in patients residing in the Rostov region varies from 1 year to 26 years, the average duration of the disease is 6.3 ± 4.7 years, during this period, the majority steadily lose their ability to work, 52.7% are disabled. The presented data demonstrates the importance of early detection of the unintended symptoms of Parkinson’s disease with the goal of timely diagnosis of motor debut, the appointment of prolonged monotherapy, that can reduce the expenses.
Journal of Clinical Practice. 2017;8(4):44-49
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EFFICACY OF INTERMITTENT NORMOBARIC HYPOXIC TRAINING IN THE TREATMENT OF ARTERIAL HYPERTENSION ASSESSED BY 24-HOUR BLOOD PRESSURE MONITORING
Abstract
The study performs the results of our own researches regarding the method of intermittent normobaric hypoxic training as drug-free treatment in patients with arterial hypertension with low risk of cardiovascular complications. Clinical efficacy was assessed according to office blood pressure changes using dynamic 24-hour blood pressure monitoring before and after treatment. High clinical efficacy and safety of hypoxic training method is demonstrated in this work.
Journal of Clinical Practice. 2017;8(4):51-55
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INFLUENCE OF DIABETES MELLITUS ON THE ACTIVITY OF METABOLIC ENZYMES AND SERCA2A EXPRESSION IN CARDIOMIOCYTES AND ITS RELATION WITH INOTROPIC REACTIONS OF THE MYOCARDIUM OF PATIENTS WITH CORONARY HEART DISEASE
Abstract
The work was performed on the biopsy material of the heart with chronic coronary heart disease (CHD), and patients with CHD combined with type 2 diabetes mellitus. It was shown that the activity of succinate dehydrogenase (LDH) enzymes in the myocardium of patients with CHD was higher than in patients with combined pathology. Both groups had patients with both “high” and “low” SERCA2a protein. In addition, the inotropic myocardial response of patients in each group also divided into 2 subgroups. At the same time, the “high content” of the SERCA2a protein corresponded to the positive dynamics of the force-interval relationship, and the “low content” of the protein studied corresponded to the negative dynamics of the force-interval relationship (mechanical restitution). At the combined development of CHD and diabetes mellitus with a short duration of the disease, the positive dynamics of the force-interval relationship is more pronounced and corresponds to a higher level of SERCA2a expression than in the development of CHD only.
Journal of Clinical Practice. 2017;8(4):56-60
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ENDOTHELIUM-DEPENDENT VASCULAR REACTIVITY IN DIABETES MELLITUS TYPE 2
Abstract
The review presents modern information on the development of disorders of endothelium-dependent vascular reactivity in diabetes mellitus (DM) type 2. In type 2 DM, disorders of endothelium-dependent vascular reactivity associated with hyperglycemia and oxidative stress, manifesting by a reduced vascular response to vasodilators and pressor (paradoxical) vascular reactions to them, directly associated with cardiovascular events are observed.
Journal of Clinical Practice. 2017;8(4):61-65
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BREAST CANCER IN YOUNG PATIENTS. PECULIARITIES OF PROGNOSIS AND ADIUVANT HORMONE THERAPY (A LITERATURE REVIEW)
Abstract
Breast cancer (BC) keeps being the most predominant malignant disease in women. In recent years, a trend towards “rejuvenescence” of the disease has been observed that affects its features. Despite modern methods of diagnosis and complex treatment used in young patients, survival in this age group are inferior that's associated with biological and morphological peculiarities of BC in young age. Gradually collected data demonstrates that age might be an independent factor exacerbating prognosis. For BC patients younger 40 years, various aspects of hormone therapy remain ambiguous: prolonged tamoxifen use, aromatase inhibitors prescription, ovarian function suppression, a role of chemotherapy-induced amenorrhea on prognosis of young BC patients. The issue of appropriate, personalized adjuvant hormone therapy of BC is complex and heterogenous that requires a necessity to further international randomized trials.
Journal of Clinical Practice. 2017;8(4):66-75
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TACHYARRHYTHMIAS IN PATIENTS WITH CANCER
Abstract
Arrhythmia is often detected in cancer patient, from single ventricular premature contractions to sustained ventricular tachycardia, life threatening ventricular fibrillation and sudden cardiac death. Oncology per se, aggressive anticancer treatment, both chemotherapy and radiation and basic cardiac conditions are main causative factors for tachyarrhythmia. In this review we summarize evidence of arrhythmia and emphasize the importance of cardiac monitoring for the early diagnosis, intervention and surveillance of those patients more susceptible to develop proarrhythmia. Oncologists should be fully aware of arrhythmia and the close collaboration between cardiologists and oncologists would result in a better cardiovascular assessment, risk stratification, cardiac monitoring and treatment.
Journal of Clinical Practice. 2017;8(4):76-89
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