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Сибирское медицинское обозрение. 2019. № 2 View full text Количество просмотров : 8398Kondakova Y.A., Voronkova A.Y. PHARMACOKINETICS OF ANTI-BACTERIAL PREPARATIONS IN CYSTIC FIBROSIS IN CHILDREN Pages: 5-13 Kondakova YuA, Voronkova AYu, Zyryanov SK, Bondareva IB. Pharmacokinetics of anti-bacterial preparations in cystic fibrosis in children. Siberian Medical
Review.2019;(2):5-13.. DOI 10.20333/2500136-2019-2-5-13 Authors Kondakova Yulia A pediatrician; Municipal Children’s Clinical Emergency Hospital; yulakondakova@rambler.ru Voronkova Anna Yu Cand.Med.Sci.; Medical Genetic Research Center; voronkova111@yandex.ru, Annotation Cystic fibrosis (CF) is one of the most frequent hereditary multisystem disease. Pathogenesis of lung damage includes development of chronic microbialinflammatory process on the background of severe violation of mucociliary clearance. Proper and timely antibiotic therapy of infectious process determines the disease prognosis greatly. To select an effective antibacterial drugs dosing regimen, it is necessary to take into account pathophysiological features of cystic fibrosis, which determine the unique pharmacokinetics (PK) in this category of patients. The review describes significant effect of age on such PK processes as: absorption, distribution, biotransformation, and elimination. The influence of factors affecting pharmacokinetics of antibacterial drugs in cystic fibrosis in childhood (transit through digestive tube, state of biliary system, biotransformation processes, etc.) is disclosed. Studying pharmacokinetics of antibacterial drugs in children with CF will increase the effectiveness of treatment, reduce the risks of antibiotic resistance, and improve the overall prognosis Keywords: cystic fibrosis, pharmacokinetics, absorption, distribution, biotransformation, elimination, antibacterial drugs, childhood. Comments Visits: 6831 Krasovskiy S.A., Amelina E.L., Kashirskaya N.Y., Voronkova A.Y., Zonenko O.G. DYNAMICS OF INDICATORS FROM NATIONAL REGISTRY ON PATIENTS WITH CYSTIC FIBROSIS DURING 2011-2017 Pages: 14-18 Krasovskiy SA, Amelina EL, Kashirskaya NY, Voronkova AY, Zonenko OG. Dynamics of indicators from national registry on patients with cystic
fibrosis during 2011-2017. Siberian Medical Review.2019;(2):14-18. DOI 10.20333/2500136-2019-2-14-18 Authors Krasovskiy Stanilsav A Cand.Med.Sci.; Pulmonology Scientific Research Institute; sa_krasovsky@mail.ru Amelina Elena L Cand.Med.Sci.; Pulmonology Scientific Research Institute; eamelina@mail.ru Kashirskaya Nataliya Y Dr.Med.Sci.; Medical Genetic Research Center; kashirskayanj@mail.ru Voronkova Anna Yu Cand.Med.Sci.; Medical Genetic Research Center; voronkova111@yandex.ru, Zonenko Oxana G assistant; Pirogov Russian National Medical Research Medical University; o.zonenko@mail.ru Annotation The aim of the research is to assess the dynamics of indicators from national register on patients with CF during 2011-2017. Material and methods. The data of seven registers on patients with cystic fibrosis in Russia during 2011 - 2017 have been analysed. Results. There was an increase in total number of patients, proportion of patients diagnosed as a result of neonatal screening, coverage by genetic research, proportion of mutations identified and their number. The following changes in the prescribed therapy are revealed: increase in the use of hypertonic sodium chloride solution and inhaled antibiotics, decrease in the use of bronchodilators and intravenous antibiotics. Inhaled steroids and ursodeoxycholic acid are less often prescribed in dynamics for adults, while systemic steroids started to be used less in children. There is no significant change in average age, proportion of adults, anthropometric indicators, and respiratory function. Conclusion. Assessment of register indicators dynamics is the most important thing in organization and optimization of medical care Keywords: register, dynamics, genetics, microbiology, anthropometry, therapy, respiratory function, complications Comments Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 10 Table 'site57.sys_comment' doesn't exist Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 53 Table 'site57.sys_comment' doesn't exist Warning: mysqli_num_rows() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 33 Table 'site57.sys_comment' doesn't exist Warning: mysqli_fetch_assoc() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 39 Table 'site57.sys_comment' doesn't exist Visits: 6833 Ryzhova N.N., Voronina O.L., Loseva E.V., Aksenova T.A., Kunda M.S., Sharapova N.E., Sherman V.D., Gintsburg A.L. RESPIRATORY TRACT MICROBIOME IN CHILDREN WITH CYSTIC FIBROSIS Pages: 19-28 Ryzhova NN, Voronina OL, Loseva EV, Aksenova EI, Kunda MS, Sharapova NE, Sherman VD, Gintsburg AL. Respiratory tract microbiome in children with cystic fibrosis. Siberian Medical Review.2019;(2):19-28. DOI 10.20333/2500136-2019-2-19-28 Authors Ryzhova Natalia N Cand.Biol.Sci.; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; rynatalia@yandex.ru Voronina Olga L Cand.Biol.Sci.; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; olv550@gmail.com Loseva Evelina V master student; Moscow Pedagogical State University; loseva.ewelina@yandex.ru Aksenova Tatiana Aleksandrovna Cand.Med.Sc, Associate Professor at Internal Diseases Propedeutics Department; Chita State Medical Academy; tatianaks@mail.ru Kunda Marina S Cand.Biol.Sci.; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; markunda99@gmail.com Sharapova Natalia E Cand.Biol.Sci.; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; natasharapova@gmail.com Sherman Victoriya D Cand.Med.Sci.; Research Centre for Medical Genetics; tovika@yandex.ru Gintsburg Alexandr L Dr.Biol.Sci.; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; gintsburg@gamaleya.org Annotation The aim of the research is to study the influence of complex of factors on respiratory tract microbiota composition in children and to identify markers of patient’s clinical conditions. Material and methods. 94 samples from 60 patients aged from 3 months to 18 years were studied by mass parallel sequencing of 16S rDNA amplicons on MiSeq Illumina platform. The obtained data was analysed by means of Microbial Genomics Module of CLC Genomic Workbench v.9 – 11 programs. Results. Significant differences between microbial communities of nasal sinuses, pharynx and lungs are shown. In samples taken from pharynx, the bond of microbiota composition with age, FEV1, clinical status and mutation class was demonstrated. In the older age group (13-18 years) in pharyngeal microbiome, proportion of Proteobacteria increases and number of “healthy” taxa belonging to Actinobacteria and Bacteroidetes decreases. In group with the reduced lung function, the levels of Firmicutes in the throat were higher (83%) with the decrease of Proteobacteria and Actinobacteria. Analysis of correlation between the severity of patient’s condition and pharyngeal microbiota revealed that during the acute period, there is an increase in proportion of Proteobacteria (up to 46%) and a decrease in proportion of Firmicutes (up to 38%). A reverse trend was observed in samples taken from lungs. The use of antibiotics both in non-acute period and in a stable state changes the composition of microbial community. By the example of one patient, it was established that minor changes in uncultivated anaerobic taxa can lead to acute period. Conclusion. Thus, the obtained data show that microbiome studies are one of the most promising areas for identifying reliable biomarkers of respiratory tract condition in patients with CF, evaluating the results of therapy and predicting clinical outcomes. Keywords: cystic fibrosis, microbiome, bacterial community, respiratory tract, acute state, new generation sequencing Comments Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 10 Table 'site57.sys_comment' doesn't exist Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 53 Table 'site57.sys_comment' doesn't exist Warning: mysqli_num_rows() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 33 Table 'site57.sys_comment' doesn't exist Warning: mysqli_fetch_assoc() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 39 Table 'site57.sys_comment' doesn't exist Visits: 6832 Ilyenkova N.A., Klimov L.Y., Zhekaite E.K., Chikunov V.V., Melianovskaya J.L., Dolbnya S.V., Zodbinova A.E. VITAMIN D PROVISION AMONG CHILDREN WITH CYSTIC FIBROSIS IN THE RUSSIAN FEDERATION DURING WINTER TIME Pages: 29-36 Ilyenkova NA, Klimov LYa, Zhekaite EK, Chikunov VV, Mel’yanovskaya YuL, Dolbnya SV, Zodbinova AE. Vitamin D provision among children with cystic fibrosis in the Russian Federation during winter time. Siberian Medical Review.2019;(2):29-36. DOI 10.20333/2500136-2019-2-29-36 Authors Ilyenkova N. A. ; Professor V.F. Voyno-Yasenetsky Krasnoyarsk State Medical University; ilenkova1@mail.ru Klimov Leonid Ya Cand.Med.Sci.; Stavropol State Medical University; klimov_leo@mail.ru Zhekaite Elena K researcher; Research Center for Medical Genetic; elena_zhekayte@mail.ru Chikunov V. V. ; Professor V.F. Voyno-Yasenetsky Krasnoyarsk State Medical University; doctorvov@mail.ru Melianovskaya Julia L researcher; Research Center for Medical Genetic; melcat@mail.ru Dolbnya Svetlana V Cand.Med.Sci.; Stavropol State Medical University; svet-lana.dolbnya@yandex.ru Zodbinova Aysa E researcher; Research Center for Medical Genetic; Annotation Cystic fibrosis (CF) is the most common monogenic disease of the white race representatives, caused by mutation of CFTR gene, characterized by lesions of exocrine glands of vital organs and usually with a severe course and prognosis. Topicality of studying vitamin D role in patients with CF is associated with the disease pathogenesis. The aim of the research. To study the level of 25 (OH) D in children and adolescents with CF in winter time on the territory of three regions of the Russian Federation (Moscow Region, Krasnoyarsk Territory, Stavropol Territory) located at different geographic latitudes, to assess the availability of vitamin D. Material and methods. The study included children with CF at the age from 0 to 18 years (n = 142). Results. The study has showed that when examining the level of 25 (OH) D in children and adolescents with CF in winter time on the territory of three regions of the Russian Federation located at different geographic latitudes, a high frequency of vitamin D insufficiency and deficiency in CF patients was determined, while it did not reach the optimal value of 50-70 ng / ml. Conclusion. Despite topicality of the problem of vitamin D deficiency in CF, the number of studies on level 25 (OH) D in various age groups and prophylactic doses of vitamin D in children is insufficient. The present study has shown that the level of 25 (OH) D in winter time in most children (both healthy and sick with CF) does not reach the optimal value of 50-70ng / ml. In both analysed groups, the level of calcidiol becomes lower with age. The frequency of vitamin D deficiency and severe deficiency was significantly higher in patients with CF compared with healthy children. Low figures were noted in Stavropol Territory opposed to Moscow region and patients of Krasnoyarsk Territory. At the moment, the need to develop new approaches to prevention vitamin D insufficiency and deficiency is of great importance. Keywords: cystic fibrosis, vitamin D, vitamin D insufficiency and deficiency, regional characteristics, 25 (OH) D, cholecalciferol Comments Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 10 Table 'site57.sys_comment' doesn't exist Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 53 Table 'site57.sys_comment' doesn't exist Warning: mysqli_num_rows() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 33 Table 'site57.sys_comment' doesn't exist Warning: mysqli_fetch_assoc() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 39 Table 'site57.sys_comment' doesn't exist Visits: 6830 Kostyuk S.V., Kon’kova M.S., Ershova E.S., Kondakova Y.A., Budzinskiy R.M., Shadrina V.V. EFFECT OF EXTRACELLULAR DNA AND NUCLEASE PLASMA ACTIVITY ON THE COURSE OF CYSTIC FIBROSIS Pages: 37-46 Kostyuk SV, Kon’kova MS, Ershova ES, Kondakova YuA, Budzinskiy RM, Shadrina VV. Effect of extracellular DNA and nuclease plasma activity on the
course of cystic fibrosis. Siberian Medical Review.2019;(2):37-46. DOI 10.20333/2500136-2019-2-37-46 Authors Kostyuk Svetlana V Dr.Biol.Sci.; Research Center for Medical Genetic; svet-vk@yandex.ru Kon’kova Marina S Cand.Biol.Sci.; Research Center for Medical Genetic; mkonkova@gmail.com Ershova Elizaveta S Cand.Biol.Sci.; Research Center for Medical Genetic; es-ershova@rambler.ru Kondakova Yulia A pediatrician; Municipal Children’s Clinical Emergency Hospital; yulakondakova@rambler.ru Budzinskiy Roman M Researcher; Research Center for Medical Genetic; SmileBRM@yandex.ru Shadrina Vera V Cand.Med.Sci.; Perm State Medical University named after Academician Ye.A. Wagner; verashadrina@mail.ru Annotation The aim of the research is to determine composition and role of eDNA and plasma nuclease activity in respiratory tract in children with cystic fibrosis. Material and methods. The study of eDNA and endonuclease activity in plasma of children with cystic fibrosis was conducted. Concentration of plasma eDNA was studied in 115 children, while the level of nuclease activity was studied in 117 patients and 49 healthy children of appropriate age and sex. eDNA was isolated by phenol extraction method. Results. eDNA index was lower than the one in the group of healthy children (p <0.05). Also, there was a decrease in nuclease activity during the acute bronchopulmonary process (p <0.05). When lung function decreases (FEV1 <80%), eDNA concentration decreased too. Patients with reduced lung function and increased need for bronchodilators had low nuclease activity. Conclusion. Changes in eDNA concentration and composition, as well as the level of nuclease activity in patients with CF, can be important for prognosing disease severity. Decoding qualitative composition of eDNA in case of cystic fibrosis requires further study to determine its role in chronic inflammatory process development. The study of eDNA and nuclease activity in case of CF can be used in the development of new pathogenetic treatment. Keywords: cystic fibrosis, paediatrics, eDNA, extracellular DNA, nuclease, pulmonary function Comments Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 10 Table 'site57.sys_comment' doesn't exist Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 53 Table 'site57.sys_comment' doesn't exist Warning: mysqli_num_rows() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 33 Table 'site57.sys_comment' doesn't exist Warning: mysqli_fetch_assoc() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 39 Table 'site57.sys_comment' doesn't exist Visits: 6827 Petrova N.V., Kondratyeva E.I., Polyakov A.V., Ivaschenko T.E., Pavlov A.E., Zinchenko R.A., Ginter E.K., Odinokova O.N., Nazarenko L.P., Kapranov N.I., Amelina E.L., Starinova M.A., Kutsev S.I., Izhevskaya V.L., Kondratenko O.V., Boychenko E.A., Kozlov A.V., Boytsova E.V., Gembitskaya T.E., Moskvina D.M., Stepanenko T.A., Filippova T.A., Konovalova L.E., Makhmutova V.R., Orlov A.V., Pashkevich A.A., Nikitina M.I., Kovalev V.N., Ignatyeva M.N., Ushatskaya O.A., Borisenko T.S., Antipova L.A., Ponomareva N.D., Shulyak I.P., Novikova O.B., Alimova I.L., Vodovozova E.V., Ledeneva L.N., Enina E.A., Ponomareva T.A., Oganesyan I.S., Kanukova N.A., Aleksanyan M.E., Zakurnaeva E.V., Filimonova M.N., Smirnova I.I., Mukhacheva V.V., Kalinina Y.E., Bulatova I.A., Tryastsina N.V., Simanova T.V., Avilov G.M., Starodubtseva O.I., Muraleva N.P., Kochergina T.A., Gogoleva E.V., Gubareva T.A., Kozlova E.A., Sikora N.V., Molchanova O.V., Satsuk N.A., Revel-Muroz N.P., Karimova I.P., Golubtsova O.I., Pavlov P.I., Asherova I.K., Zilber I.E. FEATURES OF SPECTRUM OF PATHOGENIC GENETIC VARIANTS OF THE CFTR GENE IN PATIENTS WITH CYSTIC FIBROSIS FROM THE RUSSIAN FEDERATION Pages: 47-59 Petrova NV, Kondratyeva E I, Polyakov AV, Ivaschenko TE, Pavlov AE, Zinchenko RA, Ginter EK, Odinokova ON, Nazarenko LP, Kapranov NI,
Amelina EL, Starinova MA, Kutsev SI, Izhevskaya VL, Kondratenko OV, Boychenko EA, Kozlov AV, Boytsova EV, Gembitskaya TE, Moskvina DM, Stepanenko TA, Filippova TA, Konovalova LE, Makhmutova VR, Orlov AV, Pashkevich AA, Nikitina MI, Kovalev VN, Ignatyeva MN, Ushatskaya OA, Borisenko TS, Antipova LA, Ponomareva ND, Shulyak IP, Novikova OB, Alimova IL, Vodovozova EV, Ledeneva LN, Yeninа EA, Ponomareva TA, Oganesyan IS, Kanukova NA, Aleksanyan ME, Zakurnaeva EV, Filimonova MN, Smirnova II, Mukhacheva VV, Kalinina YuE, Bulatova IA, Tryastsina NV, Simanova TV, Osipova EV, Starodubtseva OI, Muraleva NP, Kochergina TA, Gogoleva EV, Gubareva TA, Kozlova EA, Sikora NV, Molchanova OV, Satsuk NA, Revel-Muroz NP, Karimova IP, Golubtsova OI, Pavlov PI, Asherova IK, Zilber IE. Features of spectrum of pathogenic genetic variants of the CFTR gene in patients with cystic fibrosis from the Russian Federation. Siberian Medical Review.2019;(2):47-59. DOI 10.20333/2500136-2019-2-47-59 Authors Petrova Nika V Dr.Biol.Sci.; Research Center for Medical Genetics; npetrova63@mail.ru Kondratyeva Elena I Dr.Med.Sci., professor; Research Center for Medical Genetic; elenafpk@mail.ru Polyakov Aleksandr V Dr.Biol.Sci., Professor; Research Center for Medical Genetics; polyakov@med-gen.ru Ivaschenko Tatyana E Dr.Biol.Sci., Professor; Research Institute of Obstetrics, Gynecology and Reproductive Medicine D.O. Ott; tivashchenko2011@mail.ru Pavlov Aleksandr E ; Parseq Lab; apavlov@sequoiag.com Zinchenko Rena A Dr.Med.Sci., Professor; Research Center for Medical Genetics; renazinchenko@mail.ru Ginter Evgeniy K Dr.Biol.Sci., Professor, Academician RAS; Research Center for Medical Genetics; mgnc@med-gen.ru Odinokova Olga N Cand.Med.Sci.; Tomsk National Research Medical Center; olga.odinokova@medgenetics.ru Nazarenko Lyudmila P Dr.Med.Sci., Professor; Tomsk National Research Medical Center; ludmila.nazarenko@medgenetics.ru Kapranov Nikolay I Dr.Med.Sci., Professor; Research Center for Medical Genetics; 84955873366@mail.ru Amelina Elena L Cand.Med.Sci.; Pulmonology Scientific Research Institute; eamelina@mail.ru Starinova Marina A ; Research Center for Medical Genetics; registrycfrf@gmail.com Kutsev Sergey I Dr.Med.Sci., Professor, Corresponding Member of RAS; Research Center for Medical Genetics; mgnc@med-gen.ru Izhevskaya Vera L Dr.Med.Sci.; Research Center for Medical Genetics; izhevskaya@med-gen.ru Kondratenko Olga V Dr.Med.Sci.; Clinics of Samara State Medical University; baclab-samara@yandex.ru Boychenko Elena A ; Samara city children’s clinical hospital № 1 named after N. N. Ivanova; mail@1dgkb.ru Kozlov Andrey V ; Clinics of Samara State Medical University; baclab-samara@yandex.ru Boytsova Evgeniya V Dr.Med.Sci., Professor; St. Petersburg State Pediatric Medical University; Aleks-Shabalov2007@yandex.ru Gembitskaya Tatyana E Dr.Med.Sci., Professor; Pavlov First Saint Petersburg State Medical University; mukoviscidoz_otd@mail.ru Moskvina Darya M ; Pavlov First Saint Petersburg State Medical University; mosquina.daria@yandex.ru Stepanenko Tatyana A Cand.Med.Sci.; City General Hospital №2; b2@zdrav.spb.ru Filippova Tatyana A ; City General Hospital №2; b2@zdrav.spb.ru Konovalova Lyudmila E ; Children’s Clinical Hospital; dkb@lodkb.ru Makhmutova Victoriya R ; City General Hospital №2; b2@zdrav.spb.ru Orlov Aleksandr V ; Children’s City Hospital of St. Olga; pulmonology3@hotmail.com Pashkevich Aleksandr A ; Children’s City Hospital of St. Olga; pulmonology3@hotmail.com Nikitina Marina I ; Children’s City Hospital of St. Olga; pulmonology3@hotmail.com Kovalev Viktor N ; Children’s City Hospital of St. Olga; pulmonology3@hotmail.com Ignatyeva Mariya N ; Children’s City Hospital of St. Olga; pulmonology3@hotmail.com Ushatskaya Oksana A ; Children’s City Hospital of St. Olga; pulmonology3@hotmail.com Borisenko Taras S ; Children’s City Hospital of St. Olga; Antipova Lyubov A ; Children’s City Hospital of St. Olga; Ponomareva Natalya D ; Sverdlovsk Regional Clinical Hospital № 1; office@okb1.ru Shulyak Irina P ; Regional Children’s Clinical Hospital № 1; odkb-public@mis66.ru Novikova Olga B Cand.Med.Sci.; Smolensk State Medical University; gospedfpk@smolgmu.ru Alimova Irina L Dr.Med.Sci., Professor; Smolensk State Medical University; gospedfpk@smolgmu.ru Vodovozova Ella V Cand.Med.Sci.; Stavropol State Medical University; postmaster@stgmu.ru Ledeneva Larisa N Cand.Med.Sci.; Stavropol State Medical University; postmaster@stgmu.ru Enina Elena A Cand.Med.Sci.; Regional Children’s Clinical Hospital; kdkb@skkdkb.ru Ponomareva Tatyana A ; Stavropol State Medical University; postmaster@stgmu.ru Oganesyan Inna S ; Regional Children’s Clinical Hospital; kdkb@skkdkb.ru Kanukova Natalya A ; Stavropol Regional Clinical Consulting and Diagnostic Center; skkdc@skkdc.ru Aleksanyan Mery E ; Tambov Regional Children’s Clinical Hospital; post@odb.tambov.gov.ru Zakurnaeva Elena V ; Tambov Regional Children’s Clinical Hospital; post@odb.tambov.gov.ru Filimonova Margarita N ; Tomsk National Research Medical Center; margarita.filimonova@medgenetics.ru Smirnova Irina I. ; Tomsk National Research Medical Center; genetics@tnimc.ru Mukhacheva Valeriya V ; Tomsk National Research Medical Center; genetics@tnimc.ru Kalinina Yuliya E ; Tula Regional Children’s Clinical Hospital; guz.tdokb@tularegion.ru Bulatova Irina A ; Regional Clinical Hospital №1; tmn560010@gmail.com Tryastsina Natalya V ; Regional Clinical Hospital №1; tmn560010@gmail.com Simanova Tatyana V ; Republican Children’s Clinical Hospital; rdkb-priem@mail.ru Avilov Gennady Mikhaylovich Associate Professor, Department of Social Psychology and Psychosocial Technologies, Institute of Socio-Psychological; Kemerovo State University; 6, Krasnaya Street, Kemerovo, 650000; phone:+7 (3842) 581290; E-mail: avilg@mail.ru Starodubtseva Oksana I ; First Republican Clinical Hospital; lmain@rkb1.udm.ru Muraleva Nataliya P ; Republican Children’s Clinical Hospital; rdkbpriem@mail.ru Kochergina Tatyana A ; First Republican Clinical Hospital; main@rkb1.udm.ru Gogoleva Elena V ; Republican Children’s Clinical Hospital; rdkbpriem@mail.ru Gubareva Tatyana A ; Goryachev Ulyanovsk Regional Children’s Clinical Hospital; odkb@mail.ru Kozlova Elena A ; Piotrovich Children’s Regional Clinical Hospital; dkkb@dkkb.medkhv.ru Sikora Natalya V ; Perinatal Center; perinatalcenter@rambler.ru Molchanova Olga V ; Institute for Advanced Studies of Health Professionals; rec@ipksz.khv.ru Satsuk Natalya A ; Nizhnevartovsk Regional Clinical Children’s Hospital; Zavpulmo@odbhmao.ru Revel-Muroz Natalya P Cand.Med.Sci.; Chelyabinsk Regional Clinical Hospital; chelokb@mail.ru Karimova Irina P Cand.Med.Sci.; Chelyabinsk Regional Children’s Clinical Hospital; info_odkb74@mail.ru Golubtsova Olga I ; Republican Children’s Clinical Hospital; vakcina2007@mail.ru Pavlov Petr I ; Republican Clinical Hospital; rkb@med.cap.ru Asherova Irina K Cand.Med.Sci.; Children’s Clinical Hospital №1; dkb1yar@yandex.ru Zilber Ilya E ; Clinical Hospital №2; info@kb2yar.ru Annotation The aim of the research is to study features and diversity of spectrum of pathogenic genetic variants of CFTR gene (ABCC7) in Russian patients with CF presented in the Registry of patients with cystic fibrosis (CF) from the Russian Federation (RF) for 2017. Material and methods. The following data has been analysed: results of genotyping, including the analysis of frequent pathogenic genetic variants; sequencing of coding order; search for gene rearrangements of CFTR gene; 3096 patients from 81 regions of the Russian Federation represented in the Register of CF patients in the Russian Federation for 2017. Results. 196 pathogenic genetic variants of CFTR gene were identified. The total share of 11 genetic variants c.1521_1523delCTT (F508del), c.54-5940_273 + 10250del21kb (CFTRdele2,3), c.274G> A (E92K), c.2012delT (2143delT), c.3718-2477C> T (3849 + 10kbC-> T), c.3846G> A (W1282X), c.2052_2053insA (2184insA), c.1545_1546delTA (1677delTA), c.3909C> G (N1303K), c.1624G> T (G542X), c. 413_415dupTAC (L138ins) is 75.6%. 102 rare variants were found once, 29 – twice. In patients from the Russian Federation, both in spectrum and in frequency, variants, leading to serious dysfunction of the CFTR protein function (classes I, II, III) prevail. 44 genetic variants are not included in the CFTR1 and CFTR2 databases. Conclusion. Spectrum and relative frequencies of pathogenic variants of CFTR gene sequence in Russian CF patients were determined on the basis of Register data for 2017; their distribution depending on class and type was described. Genetic variants that were not previously described in CFTR1 and CFTR2 bases have been identified. The obtained results can be used to optimize genetic consultations and clinical work with families burdened with CF, as well as for further research on pathogenetic significance of genetic variants of CFTR gene that were not previously described. Keywords: cystic fibrosis, CFTR gene, spectrum of pathogenic genetic variants, Russian population Comments Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 10 Table 'site57.sys_comment' doesn't exist Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 53 Table 'site57.sys_comment' doesn't exist Warning: mysqli_num_rows() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 33 Table 'site57.sys_comment' doesn't exist Warning: mysqli_fetch_assoc() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 39 Table 'site57.sys_comment' doesn't exist Visits: 6830 Kondratyeva E.I., Melianovskaya J.L., Efremova A.S., Bulatenko N.V., Bukharova T.B., Goldshtein D.V., Zodbinova A.E., Nikonova V.S., Zhekaite E.K., Kashirskaya N.Y., Melkonyan G.G., Odinaeva N.J., Kutsev S.I. EXPERIENCE OF EVALUATING FUNCTIONALITY OF ANIONIC CFTR CHANNEL METHODS APPLICATION IN PATIENTS WITH CYSTIC FIBROSIS DIAGNOSED AND SUPPOSED Pages: 60-69 Kondratyeva EI, Melyanovskaya YuL, Efremova AS, Bulatenko NV, Bukharova TB, Goldstein DV, Zodbinova AE, Nikonov VS, Zhekaite EK, Kashirskaya NYu, Melkonyan GG, OdinaevaND, Kutsev CI.Experience of evaluating functionality of anionic CFTR channel methods application in patients with cystic fibrosis diagnosed and supposed. Siberian Medical Review.2019;(2):60-69. DOI 10.20333/2500136-2019-2-60-69 Authors Kondratyeva Elena I Dr.Med.Sci., professor; Research Center for Medical Genetic; elenafpk@mail.ru Melianovskaya Julia L researcher; Research Center for Medical Genetic; melcat@mail.ru Efremova Anna S Cand.Bio.Sci.; Research Center for Medical Genetics; anna.efremova.83@gmail.com Bulatenko Natalia V laboratory technician; Research Center for Medical Genetics; bnv695@gmail.com Bukharova Tatyana B Cand.Bio.Sci.; Research Center for Medical Genetics; bukharova-rmt@yandex.ru Goldshtein Dmitry V Dr.Bio.Sci., Professor; Research Center for Medical Genetics; dvgoldrm7@gmail.com; Zodbinova Aysa E researcher; Research Center for Medical Genetic; Nikonova Victoria S Cand.Med.Sci.; Research Center for Medical Genetics; nikonovavs@mail.ru Zhekaite Elena K researcher; Research Center for Medical Genetic; elena_zhekayte@mail.ru Kashirskaya Nataliya Y Dr.Med.Sci.; Medical Genetic Research Center; kashirskayanj@mail.ru Melkonyan Georgy G Dr.Med.Sci.; City Clinical Hospital №.4 of the Moscow City Health Department; gkb4@zdrav.mos.ru Odinaeva Niso J Dr.Med.Sci, Professor; Moscow Regional Consultative and Diagnostic Center for Children; info@mokdcd.ru Kutsev Sergey I Dr.Med.Sci., Professor, Corresponding Member of RAS; Research Center for Medical Genetics; mgnc@med-gen.ru Annotation The aim of the research is to apply method for determining intestinal potential differences (DIPD) and method of intestinal organelles (IO) to state pathogenetic role of rare or newly discovered genetic variants of CFTR gene. Material and methods. DNA diagnostics data of patients from the Russian Federation were analysed on the basis of register for 2017, including sequencing. From 3096 patients from the Russian Federation with cystic fibrosis, genetic study has been performed on 92.4% of patients. In total 196 genetic variants were identified, while 94 of them were repeated. 44 genetic variants are not found in CFTR 1 and 2 bases and require phenotype description and confirmation of clinical significance with the help of tests, characterizing the work of CFTR channel, such as DIPD method, and intestinal organelles method as well. Results. Several cultures of intestinal organelles were obtained from healthy people, from a patient with supposed cystic fibrosis and a patient with genotype F508del/F508del (c. [1521_1523delCTT]; [1521_1523delCTT]). At the same time DIPD method was used. Both methods were proved to show unidirectional results. DIPD method showed multidirectional test results in a patient with cystic fibrosis (genotype F508del/F508del (c. [1521-1515delCTT];[1521-11523delCTT]) and in a child with supposed cystic fibrosis. Test results of the latter coincided with the data obtained using healthy bowel biopsy samples. MV cultures reflect CFTR function. To prove the work and reliability of forskolin test, F508del / F508del culture (c. [1521_1523delCTT]; [1521_1523delCTT]) was used. It was shown that combined use of VX-809 corrector and VX-770 CFTR protein potentiator restores its synthesis and conductivity in epithelial cells of intestinal organelles. Conclusion. Thus, the first experience of using methods for assessing functionality of CFTR anion channel in patients with cystic fibrosis diagnosed and supposed showed their availability, both for diagnostic purposes and for personalized selection of CFTR modulators. The results were obtained with the help of DIPD and IO are the same. Keywords: cystic fibrosis, protein and CFTR channel, determination of intestinal potential difference (DIPD), intestinal organelles (IO), stimulants, forskolin test, genotype F508del / F508del, corrector VX-809, potentiator VX-770, calcein Comments Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 10 Table 'site57.sys_comment' doesn't exist Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 53 Table 'site57.sys_comment' doesn't exist Warning: mysqli_num_rows() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 33 Table 'site57.sys_comment' doesn't exist Warning: mysqli_fetch_assoc() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 39 Table 'site57.sys_comment' doesn't exist Visits: 6831 Avetisyan L.R., Chernukha M.Y., Shaginyan I.A., Medvedeva O.S., Burmistrov E.M., Rusakova E.V., Zhukhovitsky V.G., Polyakov N.B., Kozlova V.A., Budzinskiy R.M. APPLICATION OF MODERN METHODS IN MICROBIOLOGICAL DIAGNOSIS OF CHRONIC INFECTION OF LUNGS IN PATIENTS WITH CYSTIC FIBROSIS Pages: 70-79 Avetisyan LR, Chernukha MYu, Shaginyan IA, Medvedeva OS, Burmistrov EM, Rusakova EV, Zhukhovitsky VG, Polyakov NB, Kozlova EA, Budzinskiy RM. Application of modern methods in microbiological diagnosis of chronic infection of lungs in patients with cystic fibrosis. Siberian Medical Review.2019;(2):70-79. DOI 10.20333/2500136-2019-2-70-79 Authors Avetisyan Lusine R Cand.Med.Sci.; Laboratory of Molecular Epidemiology of Nosocomial Infections, N. F. Gamaleya National Research Center for Epidemiology and Microbiology; lusavr@mail.ru Chernukha Marina Yu Dr.Med.Sci, Leading Researcher; Laboratory of Molecular Epidemiology of Nosocomial Infections, N. F. Gamaleya National Research Center for Epidemiology and Microbiology; chernukha@gamaleya.org Shaginyan Igor A Dr.Med.Sci.; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; shaginyan@gamaleya.org Medvedeva Olga S Junior Researcher; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; olg.medwedewa@mail.ru Burmistrov Egor M N. F. Gamaleya National Research Center for Epidemiology and Microbiology; Junior Researcher; chetusha2006@gmail.com Rusakova Ekaterina V Professor, Dr.Med.Sci; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; rusakovaev5@yandex.ru Zhukhovitsky Vladimir G Cand.Med.Sci.; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; Zhukhovitsky@rambler.ru Polyakov Nikita B Researcher at laboratory of detection and ultrastructural analysis of microorganisms; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; polyakovnb@gmail.com Kozlova Viktoria A Junior Researcher at laboratory of detection and ultrastructural analysis of microorganisms; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; viktoria29-05@mail.ru Budzinskiy Roman M Researcher; Research Center for Medical Genetic; SmileBRM@yandex.ru Annotation The aim of the research is to justify the use of integrated approach, using modern methods of identification of microorganisms for microbiological diagnosis of chronic infection of lungs in patients with cystic fibrosis and to confirm its effectiveness. Material and methods. 2300 throat swabs and sputum samples from patients with CF and S. aureus, P. aeruginosa, Bcc and Achromobacter spp. strains, received from patients with CF during 2006 – 2018, were examined. Bacteriological, biochemical and molecular genetic methods, as well as MALDI-TOF were used. Results. It has been proved that the use of only classical bacteriological methods does not provide reliable etiological diagnosis. It is found that using identification of bacteria Achromobacter spp. and Burkholderia cepacia complex by means of bacteriological methods is the most difficult. As a result of the study, 90 species of bacteria were identified using MALDI-BIOTYPERtm, which were taken from pharynx and sputum of patients with CF. Achromobacter spp. isolates, taken from Russian patients with CF, using MALDI-BIOTYPERtm, were considered to be A. ruhlandii, A. xylosoxidans, A. insolitus, A. piechaudii, A. insuavis, A. spanius, 76 % among which belonged to A. ruhlandii species and 7.2 % – to A. xylosoxidans species. To differentiate Bcc and Achromobacter spp. bacteria up to the species, it is necessary to use multilocus sequencing (MLST) or single-locus sequencing of nrdA765, gltB, blaOXA genes (for Achromobacter spp.) and gyrB, hisA, fur (for Bcc). Using MLST the following 4 species were identified among Burkholderia cepacia complex (Bcc) isolates: B. cenocepacia, B. cepacia, B. contaminans and B. multivorans. 83.3 % of which belonged to B. cenocepacia species. MLST strains of P. aeruginosa made it possible to establish the fact that there was an international epidemic clone, ST235, circulating among CF patients, which caused hospital infections in medical institutions in various countries. MLST helped to reveal genotypes of B. cenocepacia ST709 and ST208, A. ruhlandii ST36 and S. aureus ST8 and to confirm their epidemic significance for CF patients in Russia. Conclusion. Integrated approach using MALDI-TOF, amplification and sequencing of specific genes, 16S rRNA sequencing, MLST and full genome sequencing (WGS) allows to identify pathogens with maximum confidence, as well as their epidemiological significance. Keywords: cystic fibrosis, chronic lung infection, microbiological diagnostics, MALDI-TOF, molecular genetic methods, integrated approach Comments Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 10 Table 'site57.sys_comment' doesn't exist Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 53 Table 'site57.sys_comment' doesn't exist Warning: mysqli_num_rows() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 33 Table 'site57.sys_comment' doesn't exist Warning: mysqli_fetch_assoc() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 39 Table 'site57.sys_comment' doesn't exist Visits: 6828 Voronina O.L., Ryzhova N.N., Kunda M.S., Aksenova E.I., Sharapova N.E., Amelina E.L., Lasareva A.V., Chernevich V.P., Simonova O.I., Zhukhovitsky V.G., Zhilina S.V., Semykin S.Y., Polikarpova S.V., Asherova I.K., Orlov A.V., Kondratenko O.V. MAJOR TENDENCIES IN BURKHOLDERIA DIVERSITY CHANGES, INFECTING RUSSIAN PATIENTS WITH CYSTIC FIBROSIS Pages: 80-88 Voronina OL, Ryzhova NN, Kunda MS, Aksenova EI, Sharapova NE, Amelina EL, Lasareva AV, Chernevich VP, Simonova OI, Zhukhovitsky VG, Zhilina SV, Semykin SYu, Polikarpova SV, Asherova IK, Orlov AV, Kondratenko OV. Major tendencies in burkholderia diversity changes, infecting Russian patients with cystic fibrosis. Siberian Medical Review.2019;(2):80-88.. DOI 10.20333/2500136-2019-2-80-88 Authors Voronina Olga L Cand.Biol.Sci.; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; olv550@gmail.com Ryzhova Natalia N Cand.Biol.Sci.; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; rynatalia@yandex.ru Kunda Marina S Cand.Biol.Sci.; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; markunda99@gmail.com Aksenova Ekaterina I Cand.Biol.Sci.; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; aksenova16@gmail.com Sharapova Natalia E Cand.Biol.Sci.; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; natasharapova@gmail.com Amelina Elena L Cand.Med.Sci.; Pulmonology Scientific Research Institute; eamelina@mail.ru Lasareva Anna V Cand.Med.Sci.; National Medical Research Center for Children’s Health; annalaz71@mail.ru Chernevich Vera P ; National Medical Research Center for Children’s Health; verikin@yandex.ru Simonova Olga I National Medical Research Center for Children’s Health; Dr.Med.Sci., Professor; oisimonova@mail.ru Zhukhovitsky Vladimir G Cand.Med.Sci.; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; Zhukhovitsky@rambler.ru Zhilina Svetlana V Cand.Med.Sci.; Morozov Children’s City Clinical Hospital; svzhilin@mail.ru Semykin Sergey Y Cand.Med.Sci.; Russian Children’s Clinical Hospital; dr.semykin@mail.ru Polikarpova Svetlana V head of bacteriology laboratory; O.M. Filatov City Clinical Hospital N15; spolikarpova@mail.ru Asherova Irina K Cand.Med.Sci.; Children’s Clinical Hospital №1; dkb1yar@yandex.ru Orlov Aleksandr V ; Children’s City Hospital of St. Olga; pulmonology3@hotmail.com Kondratenko Olga V Dr.Med.Sci.; Clinics of Samara State Medical University; baclab-samara@yandex.ru Annotation The aim of the research. Burkholderia is the most dangerous microorganism for patients with cystic fibrosis (CF). Burkholderia transmissibility leads to cross-infection and epidemic strains formation. Joint efforts of doctors, laboratory diagnostics specialists, scientists make certain contribution in the implementation of anti-epidemic measures into practice. The purpose of this study was to analyse the results of the measures that are often taken for patients hospitalized with CF during 2014-2018. Materials and methods. Sputum and aspirate samples from 670 patients, isolated Burkholderia cultures became the object of research, that was analysed by means of microbiological methods, mass spectrometry (MicroFlex, Bruker) and molecular genetic approaches for genotyping of Burkholderia strains. MLST (Multi Locus Sequence Typing) data were analysed using goeBURST algorithm to determine identity between Russian genotypes and genotypes deposited in the PubMLST database. Results. There is an increase in Burkholderia species diversity noted during recent years. B. gladioli and B. stabilis bacteria were found in the lower respiratory tract in patients with CF. B. multivorans, diverse in the group of adults, was not registered in children during observation period. Genotypes diversity detected by Burkholderia has increased as well. 5 genotypes 709, 710, 728, 208,903 are general both for children and adults’ groups. There was a tendency in the decrease of number of cases of infection with epidemic genotype 709 strain. High incidence of genotypes 208 and 241 causes certain anxiety in a group of children. Conclusion. The data obtained on sampling, including 87 % of patients registered as chronically infected with Burkholderia, showed the effectiveness of anti-epidemic measures, as well as the joint efforts of doctors, laboratory diagnostics specialists and scientists in timely Burkholderia diagnosis by means of microbiological and molecular genetic methods. Keywords: cystic fibrosis, Burkholderia, multilocus sequencing, genotype, epidemic strain Comments Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 10 Table 'site57.sys_comment' doesn't exist Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 53 Table 'site57.sys_comment' doesn't exist Warning: mysqli_num_rows() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 33 Table 'site57.sys_comment' doesn't exist Warning: mysqli_fetch_assoc() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 39 Table 'site57.sys_comment' doesn't exist Visits: 6827 Krasovskiy S.A., Afanasjeva M.V., Amelina E.L., Chernyak A.V., Shaginyan I.A., Polikarpova S.V., Avetisyan L.R., Chernukha M.Y., Zonenko O.G., Butyugina I.N. RESPIRATORY TRACT INFECTION BY MICRO-ORGANISMS B. CEPACIA COMPLEX AS unfavourable PROGNOSTIC FACTOR IN PATIENTS WITH CYSTIC FIBROSIS Pages: 89-94 Krasovskiy SA, Afanasjeva MV, Amelina EL, Chernyak AV, Shaginyan IA, Polikarpova SV, Avetisyan LR, Chernukha MY, Zonenko OG, Butyugina
IN. Respiratory tract infection by micro-organisms B. cepacia complex as unfavorable prognostic factor in patients with cystic fibrosis. Siberian Medical
Review. 2019;(2):89-94. DOI 10.20333/2500136-2019-2-89-94 Authors Krasovskiy Stanilsav A Cand.Med.Sci.; Pulmonology Scientific Research Institute; sa_krasovsky@mail.ru Afanasjeva Maria V research fellow of cystic fibrosis laboratory; Pulmonology Scientific Research Institute; usa-mariya@yandex.ru Amelina Elena L Cand.Med.Sci.; Pulmonology Scientific Research Institute; eamelina@mail.ru Chernyak Alexander V Cand.Med.Sci.; Pulmonology Scientific Research Institute; achi2000@mail.ru Shaginyan Igor A Dr.Med.Sci.; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; shaginyan@gamaleya.org Polikarpova Svetlana V head of bacteriology laboratory; O.M. Filatov City Clinical Hospital N15; spolikarpova@mail.ru Avetisyan Lusine R Cand.Med.Sci.; Laboratory of Molecular Epidemiology of Nosocomial Infections, N. F. Gamaleya National Research Center for Epidemiology and Microbiology; lusavr@mail.ru Chernukha Marina Yu Dr.Med.Sci, Leading Researcher; Laboratory of Molecular Epidemiology of Nosocomial Infections, N. F. Gamaleya National Research Center for Epidemiology and Microbiology; chernukha@gamaleya.org Zonenko Oxana G assistant; Pirogov Russian National Medical Research Medical University; o.zonenko@mail.ru Butyugina Irina N pulmonologist; D. D.Pletnev City Clinical Hospital; maxibut2@mail.ru Annotation The aim of the research is to determine the survival rate of patients with cystic fibrosis whose airways are chronically infected with Burkholderia cepacia complex (BCC) compared to patients with cystic fibrosis having another chronic gram-negative infection. Material and methods. The data of adult patients with cystic fibrosis observed in the Research Institute of Pulmonology during 2003-2018 has been analysed. Retrospective longitudinal comparative study was conducted. Two groups of patients were formed: – “non-BCC” group (419 people), which includes patients who are chronically infected by any gram-negative flora, but for BCC, both in monoculture and in combination with each other or with S. aureus. – BCC group (138 people): patients with chronic Burkholderia cepacia complex in monoculture and / or with S. aureus and / or other gram-negative flora. Duration of gram-negative flora infection was determined as the main study parameter of survival analysis. Results. 48.6 % of patients from “BCC” group died, while in “non-BCC” group 25.1 % of patients died. Group “BCC”: the average infection duration (ID) among the living patients was 9.0 ± 2.9 years, among those who died, before death it was 6.6 ± 4.0 years. Non-BCC group: average infection duration among the living patients was 12.4 ± 6.6 years, among those who died, before death it was 11.6 ± 6.8 years. Survival median for BCC group from the infection moment was 11.2 (95 % ID: 9.55–12.85) years, for non-BCC group it was 23.8 (95 % ID: 21.89-25, 71) years. LogRank Test: χ2 = 84.1, p <0.001. Conclusion. Respiratory tract infection with pathogens of Burkholderia cepacia complex significantly reduces life expectancy of patients with cystic fibrosis compared to chronic infection with other gram-negative flora. Thus, infection with Burkholderia cepacia complex can be considered as unfavourable prognostic factor for patients with cystic fibrosis Keywords: pulmonology, cystic fibrosis, Burkholderia cepacia complex, survival. Comments Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 10 Table 'site57.sys_comment' doesn't exist Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 53 Table 'site57.sys_comment' doesn't exist Warning: mysqli_num_rows() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 33 Table 'site57.sys_comment' doesn't exist Warning: mysqli_fetch_assoc() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 39 Table 'site57.sys_comment' doesn't exist Visits: 6825 Kondrateva E.V., Adilgereeva E.P., Amelina E.L., Tabakov V.Y., Anuchina A.A., Ustinov K.D., Yasinovskiy M.I., Voronina E.S., Lavrov A.V., Smirnikhina S.A. RECEIVING INDUCED PLURIPOTENTIAL STEM CELLS FROM FIBROBLASTS OF PATIENTS WITH CYSTIC FIBROSIS Pages: 95-101 Kondrateva EV, Adilgereeva EP, Amelina EL, Tabakov VYu, Anuchina AA, Ustinov KD, Yasinovsky MI, Voronina ES, Lavrov AV, Smirnikhina SA.
Receiving induced pluripotential stem cells from fibroblasts of patients with cystic fibrosis.Siberian Medical Review.2019;(2):95-101. DOI: 10.20333/2500136-
2019-2-95-101. DOI 10.20333/2500136-2019-2-95-101 Authors Kondrateva Ekaterina V research scientist; Research Centre for Medical Genetics; ekaterina.kondratyeva@gmail.com Adilgereeva Elmira P research scientist; Research Centre for Medical Genetics; elmira5376@gmail.com Amelina Elena L Cand.Med.Sci.; Pulmonology Scientific Research Institute; eamelina@mail.ru Tabakov Vyacheslav Yu Cand.Biol.Sci.; Research Centre for Medical Genetics; vyutab@yandex.ru Anuchina Arina A junior research scientist; Research Centre for Medical Genetics; arinate@mail.ru Ustinov Kirill D laboratory assistant; Research Centre for Medical Genetics; kirillustinov1995@gmail.com Yasinovskiy Matvey I laboratory assistant; Research Centre for Medical Genetics; myasinovski@mail.ru Voronina Ekaterina Sergeevna Cand.Med.Sci.; Research Centre for Medical Genetics; esvoronina@med-gen.ru Lavrov Alexander V Cand.Med.Sci.; Research Centre for Medical Genetics; alexandervlavrov@gmail.com Smirnikhina Svetlana A Cand.Med.Sci.; Research Centre for Medical Genetics; smirnikhinas@gmail.com Annotation The aim of the research is the development of protocol for receiving induced pluripotent stem cells (iPSCs) and the creation of line from iPSCs received from cells of patients with cystic fibrosis caused by homozygous mutation F508del. Material and methods. IPSCs were received reprogramming cultured fibroblasts of a patient with cystic fibrosis using Sendai virus. Presence of CFTR gene mutations in fibroblasts and the obtained iPSCs were confirmed by Sanger DNA sequencing. The obtained iPSC clone was cultured till embryoid bodies stage and, after spontaneous differentiation, it was stained immunocytochemically. Analysis of gene expression in the obtained iPSC line was performed using immunocytochemical staining and reverse transcription polymerase chain reaction (RT-PCR). To confirm the absence of chromosomal rearrangements, analysis of karyotype of the obtained iPSCs was performed. Results. The obtained iPSC line demonstrated embryonic stem cells morphology. The cells had normal karyotype 46, XY, they were specifically stained by antibodies for pluripotency markers (Oct4, Nanog, TRA-1-81 and SSEA-4) in immunocytochemical analysis, also they demonstrated the expression of markers for pluripotency (OCT4, NANOG and FOXD3) in RT-PCR. Cells, positively stained with antibodies for markers of three germ layers – ectoderm (b-III-tubulin), mesoderm (fibronectin) and endoderm (α-fetoprotein), were detected in the culture of differentiated iPSCs. Conclusion. Thus, a protocol for obtaining and characterizing iPSCs has been worked out, iPSC line has been created, and also their functional and phenotypic pluripotency has been confirmed. Keywords: induced pluripotent stem cells, cell reprogramming, fibroblasts, cystic fibrosis, Sendai virus. Comments Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 10 Table 'site57.sys_comment' doesn't exist Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 53 Table 'site57.sys_comment' doesn't exist Warning: mysqli_num_rows() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 33 Table 'site57.sys_comment' doesn't exist Warning: mysqli_fetch_assoc() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 39 Table 'site57.sys_comment' doesn't exist Visits: 6824 Sherman V.D., Odinaeva N.D., Chernyak A.V., Shaginyan I.A., Polikarpova S.V., Avetisyan L.R., Chernukha M.Y., Zonenko O.G., Butyugina I.N. INVESTIGATION OF THE EFFICIENCY AND TOLERANCE OF MEDICAL PRODUCT HYANEB AND 7 % HYPERTENSIVE SOLUTION OF NACL IN CHILDREN WITH CYSTIC FIBROSIS Pages: 102-106 Sherman VD, Odinaeva ND, Chernyak AV. Investigation of the efficiency and tolerance of medical product Hyaneb and 7 % hypertensive solution of NaCl in
children with cystic fibrosis. Siberian Medical Review.2019;(2):102-106. DOI 10.20333/2500136-2019-2-102-106 Authors Sherman Victoriya D Cand.Med.Sci.; Research Centre for Medical Genetics; tovika@yandex.ru Odinaeva Nuriniso D Dr.Med.Sci, Professor; Moscow Regional Consultative Diagnostic Center for Children; nig05@mail.ru Chernyak Alexander V Cand.Med.Sci.; Pulmonology Scientific Research Institute; achi2000@mail.ru Shaginyan Igor A Dr.Med.Sci.; N. F. Gamaleya National Research Center for Epidemiology and Microbiology; shaginyan@gamaleya.org Polikarpova Svetlana V head of bacteriology laboratory; O.M. Filatov City Clinical Hospital N15; spolikarpova@mail.ru Avetisyan Lusine R Cand.Med.Sci.; Laboratory of Molecular Epidemiology of Nosocomial Infections, N. F. Gamaleya National Research Center for Epidemiology and Microbiology; lusavr@mail.ru Chernukha Marina Yu Dr.Med.Sci, Leading Researcher; Laboratory of Molecular Epidemiology of Nosocomial Infections, N. F. Gamaleya National Research Center for Epidemiology and Microbiology; chernukha@gamaleya.org Zonenko Oxana G assistant; Pirogov Russian National Medical Research Medical University; o.zonenko@mail.ru Butyugina Irina N pulmonologist; D. D.Pletnev City Clinical Hospital; maxibut2@mail.ru Annotation The aim of the research is to evaluate the effectiveness and tolerance to inhalation of medical products Hyaneb (7 % sodium chloride solution and 0.1 % solution of hyaluronic acid) and 7 % sodium chloride in children over 12, suffering from cystic fibrosis. Material and methods. 38 patients with cystic fibrosis aged 12–18 received mucolytic therapy with medical product (MP) Hyaneb® (Chiesi Pharmaceutical, Italy) or 7 % GH NaCl. The criteria for study inclusion was diagnosing patients with cystic fibrosis and FEV1 40-90 %. At the end of the study, 3 groups of patients were formed: 1. Treatment with MP Gianeb for 8 weeks (n = 27); 2. Treatment with 7 % GH NaCl for 4 weeks, then MP Hyaneb for 4 weeks (n = 4); 3. Treatment with 7 % GH NaCl for 8 weeks (n = 7). Results. During 8-week study of MP Hyaneb, its effectiveness was proved in relation to respiratory function indicators, a good reliable increase in FEV1 was obtained. During the first month of follow-up, patients from Hyaneb groups and GH NaCl7 % showed the same efficiency, while Hyaneb inhalations were better tolerated by patients. Conclusion. Inhalations of MP Hyaneb and 7 % sodium chloride solution have positive effect on spirometry. MP Hyaneb inhalations are better tolerated by patients and increase compliance to treatment. Keywords: cystic fibrosis, mucociliary clearance, inhalation mucolytic therapy, hypertonic sodium chloride solution. Comments Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 10 Table 'site57.sys_comment' doesn't exist Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 53 Table 'site57.sys_comment' doesn't exist Warning: mysqli_num_rows() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 33 Table 'site57.sys_comment' doesn't exist Warning: mysqli_fetch_assoc() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 39 Table 'site57.sys_comment' doesn't exist Visits: 6820 Ilyenkova N.A., Chikunov V.V. CLINICAL CASE: OBSERVATION FOR A PATIENT WITH CYSTIC FIBROSIS AND SEVERE MANIFESTATIONS OF NUTRITIVE INSUFFICIENCY Pages: 107-109 Ilenkova NA, Chikunov VV. Сlinical case: observation for a patient with cystic fibrosis and severe manifestations of nutritive insufficiency. Siberian Medical Review.2019;(2):107-109. DOI 10.20333/2500136-2019-2-107-109 Authors Ilyenkova N. A. ; Professor V.F. Voyno-Yasenetsky Krasnoyarsk State Medical University; ilenkova1@mail.ru Chikunov V. V. ; Professor V.F. Voyno-Yasenetsky Krasnoyarsk State Medical University; doctorvov@mail.ru Annotation Cystic fibroses (CF) is a frequent monogenic disease, inherited in autosomal recessive manner, having a severe course and prognosis. The nature and extent of lungs, as well as of digestive system damage, primarily the state of nutritional status, are decisive for patient’s life. The article describes clinical observation on a child with CF, with inborn disease manifestation. The patient had a severe manifestation of nutritional deficiency from the first months of life. Attention is focused on methods of the state correction using modern medical nutritional products, new computer technologies and relevance of regular medical check-up. Keywords: cystic fibrosis, children, nutritional status, nutritional deficiency, computer program, medical nutrition, clinical case Comments Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 10 Table 'site57.sys_comment' doesn't exist Warning: mysqli_query(): (42S02/1146): Table 'site57.sys_comment' doesn't exist in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 53 Table 'site57.sys_comment' doesn't exist Warning: mysqli_num_rows() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 33 Table 'site57.sys_comment' doesn't exist Warning: mysqli_fetch_assoc() expects parameter 1 to be mysqli_result, bool given in /home/var/www/mirror/site/smr.krasgmu.ru/sys/phpsys/__db.php on line 39 Table 'site57.sys_comment' doesn't exist Visits: 6817 Artukhov I.P., Kapitonov V.F., Senchenko A.Y., Kapitonov F.V. MORBIDITY OF POPULATION IN THE CONDITIONS OF ACTIVE CLINICAL EXAMINATION Pages: 110-116 Artyukhov IP, Kapitonov VF, Senchenko AYu, Kapitonov FV. Morbidity of population in the conditions of active clinical examination. Siberian Medical Review.2019;(2):110-116. DOI 10.20333/2500136-2019-2-110-116 Authors Artukhov Ivan Pavlovich MD, Professor; Professor V.F. Voyno-Yasenetsky Krasnoyarsk State Medical University; rector@krasgmu.ru Kapitonov Vladimir Fedorovich Doctor of Medical Science, Professor of the Department for Health Care Management, Institute of Postgraduate Education; Professor V.F. Voyno-Yasenetsky Krasnoyarsk State Medical University; Vkapit5@yandex.ru Senchenko Alexey Yurievich Cand. Med. Set., Associate Professor of the Department of Management in Health Care IPE; Professor V.F. Voyno-Yasenetsky Krasnoyarsk State Medical University; sentchento@mail.ru Kapitonov Fedor V. Postgraduate Student; Professor V.F. Voino-Yasenetsky Krasnoyarsk State Medical University; kapitonovfedor@yandex.ru Annotation The aim of the research is to study the effect of clinical and preventive examinations on morbidity rates among population. Material and methods. Morbidity indicators among population of the Krasnoyarsk Territory were studied in general along with comparative features of the mentioned indicators among the population living in urban settlements and rural areas, before the changes in form 12 (population morbidity due to the apply) and after the changes (total population morbidity). The average morbidity indicators due to the apply (for 2012–2014) and total morbidity (for 2015–2017) are calculated. To estimate urban population morbidity, we considered population of Krasnoyarsk city which amounts 48.4 % of total population of urban settlements of the territory; as for rural areas, the population of 21 regions were considered, the population of which amounts 48.7 % of all rural inhabitants. The proportion of newly diagnosed diseases during clinical and preventive examinations was calculated for the period from 2015 to 2017, since publication of the Order of Ministry of Healthcare of the Russian Federation No. 87 н “On unified form of medical documentation and on the form of statistical reportings used in clinical examination of certain groups of adult population as well as in preventive examinations, on rules of filling them in”. Results. It was established that the average overall morbidity (during 2015-2017) among population of Krasnoyarsk Territory, compared with the average morbidity attendance (during 2012-2014), decreased by 25.2, the data among residents of urban settlements decreased by 30, 1 ‰ and among villagers – by 140.5 ‰. The decrease in the overall morbidity among residents of urban settlements occurred due to the decrease in the rate of previously known morbidity by 43.6, while the indicators of primary morbidity increased by 13.5. The decline among residents of rural areas occurred both due to primary morbidity by 104.1, and due to previously known one by 36.4. Generally, the average proportion of newly diagnosed diseases in the total morbidity around the territory during preventive examinations was 2.4 %, while during clinical examination it was 1.5 % of all primary registered diseases. The average proportion in urban settlements, when conducting preventive examinations, was 2.4 %, as for clinical examination – 1.4 %, in rural areas, respectively it was 2.2 % and 3.1 %. The results obtained by age groups have similar changes. Conclusion. The obtained data on morbidity dynamics among the population indicate the following: decrease in medical care availability; low medical and preventive activity among the population. Negative growth rates of averages of previously known diseases show that the main purpose of clinical examination among adult population, aimed at early detection of chronic non-infectious diseases (conditions), which is the main cause of disabilities and premature mortality of the population of the Russian Federation, has not been achieved. The incidence, calculated according to form 12 of state statistical observation, starting from 2015, should be considered summed one, since it includes the diseases identified when applying for medical help and during clinical and professional examinations. Keywords: population; morbidity due to the apply; total morbidity; age groups; clinical examination; preventive examinations. 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