Kazanskiy meditsinskiy zhurnal最新文献

{"title":"Slc6a4, Tph2, Htr1b, Htr2a genes expression in the mouse spinal cord after microgravity exposure simulation on earth","authors":"M. Kuznetsov, Кузнецов Максим Сергеевич, A. N. Lisyukov, Лисюков Артур Николаевич, M. Davleeva, Давлеева Мария Александровна, A. Izmailov, Измайлов Андрей Александрович","doi":"10.17816/kmj2020-698","DOIUrl":"https://doi.org/10.17816/kmj2020-698","url":null,"abstract":"Aim. To determine the level of gene expression of the serotonergic neurotransmission system (Slc6a4, Tph2, Htr1b, Htr2a) in the cervical and lumbar enlargement of the spinal cord for mice after 30-day microgravity exposure simulation by using the antiorthostatic unloading model by Morey-Holton et al. and a subsequent 7-dayrecovery period. Methods. The experimental animals were divided into three groups: “Unloading” group with mice undergoes hindlimb-unloading procedure for 30 days (n=5); “Recovery” group with mice undergoes hindlimb-unloading procedure for 30 days, followed by readaptation within 7 days (n=5); “Control” group with mice kept at standard vivarium conditions (n=5). The expression level of genes encoding synaptic proteins in the central nervous system was estimated by a real-time polymerase chain reaction. Results. There were no statistically significant differences between the studied groups regarding the Tph2, Htr1b, and Htr2a expressions in the cervical and lumbar enlargement of the spinal cord. Compared to the “Control” group, a statistically significant increase (6.3 times) in the level of Slc6a4 expression in the lumbar spinal cord was revealed after microgravity exposure simulation (“Unloading” group), followed by a 3-fold decrease during the readaptation period (“Recovery” group ). Conclusion. The expression level of the Slc6a4 gene, which encodes carrier protein involved in the function of serotonergic synapses, may indicate the potential involvement of this neurotransmitter system in the pathogenesis of movement disorders after microgravity exposure simulation on earth.","PeriodicalId":17798,"journal":{"name":"Kazanskiy meditsinskiy zhurnal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80815353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk of long QT syndrome in novel coronavirus COVID-19","authors":"V. Oslopov, J. V. Oslopova, E. Hazova, K. S. Sergienko, A. F. Murzakhanova, J M Boichuk","doi":"10.17816/kmj2020-749","DOIUrl":"https://doi.org/10.17816/kmj2020-749","url":null,"abstract":"The article is devoted to the risk of cardiovascular disease in coronavirus infection In March 2020, the World Health Organization announced the COVID-19 pandemic The virus set many tasks for practicing doctors, including the study of its pathogenesis and the creation of a therapy suitable for all patient groups This paper presents information about cellular entry of the coronavirus, the development of cardiovascular diseases, in particular, the heart, and the latest data on experimental therapy with hydroxychloroquine Coronavirus has been shown to affect the synthesis of angiotensin 2, which increase the QT interval At the same time, the combination therapy -using chloroquine and azithromycin caused a critical prolongation of the QT interval in some cases On 4 July 2020, WHO accepted the Solidarity Trial’s International Steering Committee recommendation has stop the trial of these drugs Cardiologists should review the latest information on the effects of coronavirus on the cardiovascular system and based on this, make recommendations the management and treatment of severe patients Статья посвящена риску развития поражений со стороны сердечно-сосудистой системы при коронавирусной инфекции В марте 2020 г Всемирная организация здравоохранения объявила пандемию COVID-19 Вирус поставил перед практикующими врачами массу задач, среди которых исследование его патогенеза и создание терапии, подходящей всем группам пациентов В статье представлены сведения о попадании коронавируса в клетку, развитии поражений со стороны сердечно-сосудистой системы, в частности сердца, и последние данные об экспериментальной терапии гидроксихлорохином Было показано, что COVID-19 влияет на синтез ангиотензина-2, увеличивая интервал QT Вместе с тем комбинированное применение хлорохина вместе с азитромицином вызывало критическое удлинение интервала QT у некоторых пациентов Уже 4 июля 2020 г Всемирная организация здравоохранения в связи с рекомендациями Международного руководящего комитета клинического исследования «Solidarity» остановила испытания данных препаратов Именно кардиологам предстоит не только проанализировать будущие результаты исследований о влиянии коронавируса на сердечно-сосудистую систему, но и составить на основе этого рекомендации по ведению и лечению тяжёлых пациентов","PeriodicalId":17798,"journal":{"name":"Kazanskiy meditsinskiy zhurnal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82614759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gastroesophageal reflux disease in residents of the Trans-Baikal Territory","authors":"A. Zhilina, Жилина Альбина Александровна, N. Lareva, Ларева Наталья Викторовна, E. Luzina, Лузина Елена Владимировна","doi":"10.17816/kmj2020-661","DOIUrl":"https://doi.org/10.17816/kmj2020-661","url":null,"abstract":"Aim. To study the prevalence of gastroesophageal reflux disease (GERD) symptoms and lesions of the esophageal mucosa in residents of Zabaikalsky krai, taking into account ethnicity. Methods. The first stage: 371 residents of Zabaikalsky krai over 18 years old, were door-to-door interviewed by using the GERD questionnaire (GerdQ). The respondents with 8 or more points were classified as having GERD symptoms. Additionally, we collected passport data, smoking status, alcohol and coffee consumption, anthropometric data and social status. The second stage: we analyzed 2130 upper gastrointestinal (GI) endoscopy reports from Regional Clinical Hospital in Chita. Results. 48 (12.9%) of 371 respondents had GERD symptoms. 135 (36.4%) respondents were Buryats, and 236 (63.6%) were non-Buryats, with the latter more often had GerdQ total score of 8 or more [38 (16.1%) non-­Buryats and 10 (7.4%) Buryats, p=0.009]. The average age of non-Buryats respondents with GERD symptoms was 53.4±17.47 years and exceeded that in the group without symptoms (46.2±19.2 years), p=0.035. The age of Buryats with and without GERD symptoms did not differ (42.67±11.52 and 37.89±15.54 years, respectively, р=0.087). The prevalence of obesity, smoking, alcohol and coffee consumption of respondents with and without GERD symptoms, both among Buryats and non-Buryats was the same. Of the 2130 patients who underwent endoscopy, 164 (7.8%) had morphological changes in the esophagus, 105 (4.9%) had erosive esophagitis (EE). Catarrhal and erosive chan­ges in the esophagus were detected in 156 non-Buryats (91 men and 66 women) (7.7%), while EE was diagnosed in 97 (4.8%) patients. 6.5% (5 women and 3 men) Buryats had the esophagus pathology, which caused by erosion. It was found that in non-Buryats group EE develop more often in male respondents (p=0.0019). Only non-Buryats had catarrhal changes in the esophagus (37.8%, 59 people), p=0.0312. At the same time, the incidence of complica­ted disease course in groups with EE was the same (p=0.8934). Conclusion. About 13% of residents of Zabaikalsky krai have weekly symptoms of GERD, male of a non-Buryat ethnic group are more likely to develop erosive esophagitis than women; the incidence of complications of esophagitis is the same in Buryats and non-Buryats respondents groups.","PeriodicalId":17798,"journal":{"name":"Kazanskiy meditsinskiy zhurnal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87362293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bactericidal capacity of oral neutrophils as a marker for clinical course of inflammatory ­respiratory diseases in children","authors":"O. I. Pikuza, Пикуза Ольга Ивановна, R. Fayzullina, Файзуллина Резеда Абдулахатовна, A. M. Zakirova, Закирова Альфия Мидхатовна, Z. Y. Suleymanova, Сулейманова Зульфия Ядитовна, E. Rashitova, Рашитова Элина Ленаровна, E. V. Volyanyuk, Волянюк Екатерина Вячеславовна","doi":"10.17816/kmj2020-740","DOIUrl":"https://doi.org/10.17816/kmj2020-740","url":null,"abstract":"Aim. To study the number of neutrophils in the oral cavity, their bactericidal potential, to assess as an indicator for predicting the course of recurrent bronchitis (J40) and community-acquired focal pneumonia in children. Methods. 87 children between 5 and 10 years old, including 52 children with recurrent bronchitis and 35 with focal community-acquired pneumonia were observed. The control group consisted of 37 conditionally healthy children of a similar age. Viral antigens were studied by chemiluminescence immunoassay. Oral neutrophil counts and functional activity were determined. Antibacterial antibodies were measured by an enzyme-linked immunosorbent assay (ELISA). Results. 70.11% of patients had a viral antigen, and 57.47% had immunoglobulins M and G against bacterial pathogens. Oral neutrophil counts increased in the main group compared to the control group: up to 163.8±26.5 cells (p <0.001) in recurrent bronchitis, to 110.9±25.5 (p <0.05) in community-acquired pneumonia. By the recovery period, the number of oral neutrophils counts decreased in recurrent bronchitis (1.7 times higher compared to the control group, p <0.01) and remained practically unchanged in community-acquired pneumonia (115.0±26.9, p <0.05). Myeloperoxidase level had opposite changes for the groups compared to the control group: with recurrent bronchitis, it was 1.61±0.09 to the level in the control group (p <0.05), with community-acquired pneumonia — 0.73±0.09 to the level in the control group (p <0.001). The level of lysosomal cationic proteins decreased to 0.77±0.09 to the level in the control group (p <0.05) in recurrent bronchitis, and to 0.80±0.09 (p <0.05) in pneumonia. Conclusion. In inflammation of the respiratory tract, neutrophil migration to the oral cavity, as well as myelope­roxidase level, increases, indicators of spontaneous luminol-dependent chemiluminescence are activated, and a deficiency of lysosomal cationic proteins occurs; this prevents the penetration of the pathogen into the lower respiratory tract.","PeriodicalId":17798,"journal":{"name":"Kazanskiy meditsinskiy zhurnal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79162139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prediction of temporary disability due to of circulatory system diseases in housing and communal services employees","authors":"G. Y. Bendyuk, Бендюк Григорий Яковлевич, N. Grishina, Гришина Наталья Константиновна, M. A. Dokhov, Дохов Михаил Александрович, A. A. Sidorov, Сидоров Александр Анатольевич","doi":"10.17816/kmj2020-734","DOIUrl":"https://doi.org/10.17816/kmj2020-734","url":null,"abstract":"Aim. To develop a prognostic model of incidence of temporary (short-term) disability due to cardiovascular diseases in a housing and communal services employees using the example of the State Unitary Enterprise (SUE) “Vodokanal of St. Petersburg”. Methods. The study included 4634 people, observed in the departmental outpatient clinic of SUE “Vodokanal of St. Petersburg”, between 2015 and 2017 years. We calculated extensive indicators determining the disease patterns and intensive indicators characterizing the prevalence of the pathological process in the study of morbidity by the findings of periodic health examinations and incidence of short-term disability. The incidence of short-term disability was predicted by using the method of sequential analysis A. Wald modified by E.V. Gubler and the neural network. Results. We found that based on the operational and statistical data of the medical and sanitary unit, using a neural network, relying on linear and nonlinear dependence of comorbidity, in particular, respiratory diseases, it is possible to predict (in 92.4% of cases) the incidence of temporary disability due to cardiovascular diseases in employees of the housing and communal services SUE “Vodokanal of St. Petersburg”. The high sensitivity (97.7%) and specificity (90.7%) of the method allows it to predict the need for treatment and prophylaxis measures in the contingent attached to the medical and sanitary unit. Conclusion. The developed model allows to determine the main directions of preventive work to reduce the incidence of circulatory system diseases with temporary disability: prevention of high blood pressure and respiratory diseases.","PeriodicalId":17798,"journal":{"name":"Kazanskiy meditsinskiy zhurnal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74733357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The effect of nitroglycerin on cardiac extrasystoles and heart rate variability in patients with ­stable angina pectoris class 1 and 2","authors":"E. Safronova, Сафронова Элеонора Аркадьевна, A. Kuzin, Кузин Анатолий Иванович, U. V. Kharlamova, Харламова Ульяна Владимировна, T. Shamaeva, Шамаева Татьяна Николаевна, L. Ryabova, Рябова Лиана Валентиновна","doi":"10.17816/kmj2020-645","DOIUrl":"https://doi.org/10.17816/kmj2020-645","url":null,"abstract":"Aim. To study the effect of nitroglycerin on the heart rate and its variability in patients with stable angina pectoris class 1 and 2. Methods. 85 men with stable angina pectoris class 1 and 2 pathologies were examined between 2007 and 2012 in the City Clinical Hospital No. 8 of Chelyabinsk (mean age 53.1±5.66 years). In addition to common methods, a rhythmocardiographic study was performed, which allows you to calculate heart rate variability. An electrocardiogram was recorded simultaneously with the rhythmocardiogram. Results. After sublingual nitroglycerin, the number of ventricular extrasystoles decreased in the background test and during Valsalva maneuver, increased in the Ashner's test and an exercise stress tests and did not change in the orthostatic test. An increase in supraventricular extrasystoles after nitroglycerin administration occurred in 10.6% of patients. Nitroglycerin administration resulted in a decrease in the inter-systolic intervals, an increased in the proportion of slow low-frequency waves— statistically significant in the background and an exercise stress test. Spectral indicators of cardiac sympathetic modulation significantly increased in the Ashner’s test and decreased in the background test, while spectral indicators of cardiac parasympathetic modulation decreased in all samples except in exercise stress tests. Conclusion. Under the influence of nitroglycerin, supraventricular arrhythmias increased in all vegetative tests except for orthostatic, the number/severity of ventricular extrasystoles ambiguously changed: decreased in Valsalva manoeuvre the background test, did not change in orthostatic and increased in Aschner's and an exercise stress tests; after nitroglycerin, the proportions of sympathetic influence (in Ashner's test) and slow low-frequency waves in the spectrum of the vegetative modulation increased with a decrease in parasympathetic.","PeriodicalId":17798,"journal":{"name":"Kazanskiy meditsinskiy zhurnal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85965303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of postoperative prognostic factors in patients with long bones metastatic lesions","authors":"Jun Wang, N. Kharchenko, V. Karpenko","doi":"10.17816/kmj2020-685","DOIUrl":"https://doi.org/10.17816/kmj2020-685","url":null,"abstract":"Currently, with the development of the concept of cancer treatment, the survival rate of patients has increased significantly, but the percentage of the frequency of various metastatic lesions remains high. The bones of the skeleton are one of the main parts of metastases. In cancer patients, bone metastases usually mean that the disease is at an advanced stage, and the prognosis is not good. These patients often suffer from many complications, including pain, decreased mobility, pathological fractures, etc. The quality of life of patients is seriously deteriorating. Therefore, the main goal of surgical treatment of patients with bone metastases is the earliest possible restoration the function of the affected limb, pain relief, prevention of pathological fractures and the improvement of the quality of life of patients after surgery. This literature review analyzes the incidence of bone metastases in patients, and the dependence of metastatic lesions of long tubular bones on localization incidence of bone metastases in different body parts. The domestic and foreign literature on the surgical treatment of patients with metastatic bone lesions was analyzed. The results of the analysis show that the features of surgical treatment are becoming the main factors influencing the prognosis in patients with metastatic lesions of the long bones.","PeriodicalId":17798,"journal":{"name":"Kazanskiy meditsinskiy zhurnal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72774396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Psychological characteristics of patients with primary dysmenorrhea","authors":"E. Makaricheva, Макаричева Эльвира Вячеславовна, M. S. Burguvan, Бургуван Мария Степановна","doi":"10.17816/kmj2020-760","DOIUrl":"https://doi.org/10.17816/kmj2020-760","url":null,"abstract":"Aim. To study the psychological characteristics of women with primary dysmenorrhea. Methods. We examined 77 women of childbearing age, divided into the main (40 women) and control (37 women) groups. The criterion for inclusion in the main group was a clinically confirmed diagnosis of “primary dysmenorrhea” with a regular menstrual cycle. The exclusion criteria were an organic gynecological pathology, a diagnosis of secondary dysmenorrhea and an irregular menstrual cycle. The criterion for inclusion in the control group was absolute painlessness of menstruation and the absence of gynecological diseases. The survey was conducted using psychodiagnostic techniques: a method for self-assessment of anxiety, rigidity, and extroversion; test “Express diagnosis of the level of self-esteem”; a technique for studying accentuation of personality traits; test-questionnaire of psychological defense mechanisms “Life Style Index”; questionnaire “Methods of coping behavior”, statistical methods. Also, a specially developed questionnaire was used, including questions related to socio-psychological parameters, as well as the nature and intensity of pain. Results. Significant differences between the groups characterizing coping strategies were found: distance (p <0.002); escape-avoidance (p <0.029); psychological defenses: denial (p <0.006), regression (p <0.011). The subjects of the main group were characterized by significantly high anxiety levels (p <0.020) with the average score 47.2±1.15 corresponding to a hyperanxious and low self-esteem (p <0.001) with the average score 30.1±1.43 compared to women in the control group: 42.7±1.53 — average anxiety level and 27.4±1.31 — normal self-esteem. Conclusion. The features of the relationship of the psychological characteristics of women with “primary dysmenorrhea” were revealed; it was proved that the subjects of the main and control groups differ in the features of coping behavior, psychological defenses and accentuation of personality traits, and also have reliably distinguishable levels of anxiety and self-esteem.","PeriodicalId":17798,"journal":{"name":"Kazanskiy meditsinskiy zhurnal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82065544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of the effect of exogenous fibrin monomer on post-traumatic bleeding in hypofibrinogenemia caused by administration of snake venom Agkistrodon rhodostoma","authors":"V. M. Vdovin, Вдовин Вячеслав Михайлович, A. Momot, Момот Андрей Павлович, D. Orekhov, Орехов Дмитрий Андреевич, I. Shakhmatov, Шахматов Игорь Ильич, N. Lycheva, Лычёва Наталья Александровна, D. Momot, Момот Дмитрий Андреевич","doi":"10.17816/kmj2020-704","DOIUrl":"https://doi.org/10.17816/kmj2020-704","url":null,"abstract":"Aim. To assess the effect of fibrin monomer on the rate of blood loss after controlled liver injury in hypofibrinoge­nemia induced by systemic administration of Malayan pit viper venom (Agkistrodon rhodostoma). Methods. A placebo-controlled study of the hemostatic effect of fibrin monomer administered intravenously at 0.25 mg/kg, and coagulation parameters in the controlled liver injury with profound hypofibrinogenemia caused by administration of Malayan pit viper venom was conducted in 34 male Chinchilla rabbits. The distribution of the studied parameters was investigated by the Shapiro–Wilk test. Statistical differences between groups were tested by Student’s t-test, Mann–Whitney U test, or Wilcoxon test, as appropriate. Differences in mortality rate were exa­mined using Fisher's exact test. Results. A model of experimental toxogenic disseminated intravascular coagulation was reproduced, manifested by high mortality of animals (50.0%), severe blood loss (increased blood loss by 1.78 times), hemolysis, a decreased platelet count (by 19.6% of median) and platelet dysfunction, fibrinogen consumption (protein content less than 0.9 g/l), hypocoagulation as well as intensive D-dimer production (increased concentration by 25.0 times of me­dian). A high level of the fibrin derivative demonstrated activation of fibrin formation and fibrinolysis in the bloodstream of the animals. Systemic prophylactic administration of exogenous fibrin monomer after receiving snake venom did not lead to a decrease in post-traumatic bleeding, whereas earlier, during reproduction of disseminated intravascular coagulation caused by streptokinase infusion, such a hemostatic effect of fibrin monomer was shown. Conclusion. The absence of fibrin monomer effect (at a dose of 0.25 mg/kg) on the severity of blood loss in toxo­genic disseminated intravascular coagulation may be associated with more profound disseminated intravascular coagulation and a sharp 25-fold increase in D-dimer levels that can act as a fibrin monomer polymerization inhibitor.","PeriodicalId":17798,"journal":{"name":"Kazanskiy meditsinskiy zhurnal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78794542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spectrum and frequency of BRCA1, BRCA2, CHEK2, PALB2, RAD50 mutations in breast cancer patients in the Republic of Bashkortostan","authors":"A. Pushkarev, Пушкарёв Алексей Васильевич, N. Sultanbaeva, Султанбаева Надежда Ивановна, V. Pushkarev, Пушкарёв Василий Александрович, A. Nasretdinov, Насретдинов Айнур Фанутович, K. Menshikov, Меньшиков Константин Викторович, S. Musin, Мусин Шамиль Исмагилович, I. Minniakhmetov, Минниахметов Илдар Рамилевич, I. Gilyazova, Гилязова Ирина Ришатовна, A. Izmailov, Измайлов Адель Альбертович, A. V. Sultanbaev, Султанбаев Александр Валерьевич","doi":"10.17816/kmj2020-691","DOIUrl":"https://doi.org/10.17816/kmj2020-691","url":null,"abstract":"Aim. To assess the spectrum and frequency of mutations in patients with hereditary breast cancer from the Republic of Bashkortostan. Methods. The material for the study was sections of fresh frozen, formalin-fixed and paraffin-embedded tumor tissue from 100 unrelated patients with a histologically confirmed diagnosis of breast cancer. The study was carried out using two methods: real-time polymerase chain reaction and next-generation sequencing-NGS. Results. By using real-time polymerase chain reaction (PCR), the 5382insC mutation in the BRCA1 gene was detected in 12 cases. By using a next-generation sequencing method (NGS), highly penetrant mutations in BRCA1, BRCA2, CHEK2, PALB2 and RAD50 were revealed in 16 patients. In total, these methods detected mutations in 28 patients. Out of a total of probands in the BRCA1 gene, mutations were detected in 13 patients, that included 12 patients with the 5382insC mutation, and 1 patient with c.3143delG. In the BRCA2 gene, mutations were revealed in 3 patients, of which c.6621_6622del in 2 patients and c.-39-1_-39delGA in 1 patient. Mutations in CHEK2 were detected in 5 patients: c.470T>C in 3 patients, c.444+1G>A in 2 patients. The 1592delT mutation in PALB2 was found in 4 patients. The c.2157delA mutation in RAD50 was detected in 3 patients. Conclusion. Pathogenic mutations in BRCA1/2, CHEK2, PALB2 and RAD50 were found in 28 patients with a hereditary feature of the disease; the identification of highly penetrant mutations in probands allowed us to determine their relatives, probable carriers of mutations, which were referred for genetic counselling.","PeriodicalId":17798,"journal":{"name":"Kazanskiy meditsinskiy zhurnal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91127366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}