Репозиторий Университета

© 2018, © 2018 Informa UK Limited, trading as Taylor  &  Francis Group. Background: Mesenchymal dysplasias or inherited connective tissue diseases are the group of diseases with deficiency of various components of connective tissue. Connective tissue disorders can affect different organs: skeleton, sight organ, skin, lungs, heart. But the most dangerous is vascular wall insufficiency leading to high risk of hemorrhage, especially during pregnancy and delivery due to hemodynamic and hormonal effects on the walls of the modified vessels. Aim: To evaluate the risk of complications during the pregnancy and delivery in patients with mesenchymal dysplasias. Study design: Fifty-six pregnancies in patients with mesenchymal dysplasias, including subclinical forms of diseases: 23 with Marfan syndrome (I group), 22 with Ehlers–Danlos syndrome (II group), and 11 with Osler–Weber–Rendu syndrome (hereditary hemorrhagic telangiectasia) (III group) of the age from 18 to 36. The study included retrospective analysis (for the period from 1993 to 2005) and prospective study. Results of study showed high risk of life-threatening complications during pregnancy and delivery, especially the risk of hemorrhage and cardiovascular complications. In all the patients, we observed the progression of bleeding or development of bleeding in new localizations (epistaxis in 27 patients, easy brushing in 22, skin and mucosa telangiectasia in 20, gastrointestinal bleedings in 4, hemoptysis in 4, hematomas for minor traumas in 14, conjunctivas hemorrhages in 5). Conclusion: The pathogenesis of bleeding in such patients has mixed pattern: besides vascular wall pathology coagulation deficiency plays some role. The preferred delivery method for such patients is caesarean section. Deep vaginal ruptures and serious hemorrhage accompany vaginal delivery.

© 2018, © 2018 Informa UK Limited, trading as Taylor  &  Francis Group. Background: Mesenchymal dysplasias or inherited connective tissue diseases are the group of diseases with deficiency of various components of connective tissue. Connective tissue disorders can affect different organs: skeleton, sight organ, skin, lungs, heart. But the most dangerous is vascular wall insufficiency leading to high risk of hemorrhage, especially during pregnancy and delivery due to hemodynamic and hormonal effects on the walls of the modified vessels. Aim: To evaluate the risk of complications during the pregnancy and delivery in patients with mesenchymal dysplasias. Study design: Fifty-six pregnancies in patients with mesenchymal dysplasias, including subclinical forms of diseases: 23 with Marfan syndrome (I group), 22 with Ehlers–Danlos syndrome (II group), and 11 with Osler–Weber–Rendu syndrome (hereditary hemorrhagic telangiectasia) (III group) of the age from 18 to 36. The study included retrospective analysis (for the period from 1993 to 2005) and prospective study. Results of study showed high risk of life-threatening complications during pregnancy and delivery, especially the risk of hemorrhage and cardiovascular complications. In all the patients, we observed the progression of bleeding or development of bleeding in new localizations (epistaxis in 27 patients, easy brushing in 22, skin and mucosa telangiectasia in 20, gastrointestinal bleedings in 4, hemoptysis in 4, hematomas for minor traumas in 14, conjunctivas hemorrhages in 5). Conclusion: The pathogenesis of bleeding in such patients has mixed pattern: besides vascular wall pathology coagulation deficiency plays some role. The preferred delivery method for such patients is caesarean section. Deep vaginal ruptures and serious hemorrhage accompany vaginal delivery.

© 2018, © 2018 Informa UK Limited, trading as Taylor  &  Francis Group. Background: Mesenchymal dysplasias or inherited connective tissue diseases are the group of diseases with deficiency of various components of connective tissue. Connective tissue disorders can affect different organs: skeleton, sight organ, skin, lungs, heart. But the most dangerous is vascular wall insufficiency leading to high risk of hemorrhage, especially during pregnancy and delivery due to hemodynamic and hormonal effects on the walls of the modified vessels. Aim: To evaluate the risk of complications during the pregnancy and delivery in patients with mesenchymal dysplasias. Study design: Fifty-six pregnancies in patients with mesenchymal dysplasias, including subclinical forms of diseases: 23 with Marfan syndrome (I group), 22 with Ehlers–Danlos syndrome (II group), and 11 with Osler–Weber–Rendu syndrome (hereditary hemorrhagic telangiectasia) (III group) of the age from 18 to 36. The study included retrospective analysis (for the period from 1993 to 2005) and prospective study. Results of study showed high risk of life-threatening complications during pregnancy and delivery, especially the risk of hemorrhage and cardiovascular complications. In all the patients, we observed the progression of bleeding or development of bleeding in new localizations (epistaxis in 27 patients, easy brushing in 22, skin and mucosa telangiectasia in 20, gastrointestinal bleedings in 4, hemoptysis in 4, hematomas for minor traumas in 14, conjunctivas hemorrhages in 5). Conclusion: The pathogenesis of bleeding in such patients has mixed pattern: besides vascular wall pathology coagulation deficiency plays some role. The preferred delivery method for such patients is caesarean section. Deep vaginal ruptures and serious hemorrhage accompany vaginal delivery.

© 2018, © 2018 Informa UK Limited, trading as Taylor  &  Francis Group. Background: Mesenchymal dysplasias or inherited connective tissue diseases are the group of diseases with deficiency of various components of connective tissue. Connective tissue disorders can affect different organs: skeleton, sight organ, skin, lungs, heart. But the most dangerous is vascular wall insufficiency leading to high risk of hemorrhage, especially during pregnancy and delivery due to hemodynamic and hormonal effects on the walls of the modified vessels. Aim: To evaluate the risk of complications during the pregnancy and delivery in patients with mesenchymal dysplasias. Study design: Fifty-six pregnancies in patients with mesenchymal dysplasias, including subclinical forms of diseases: 23 with Marfan syndrome (I group), 22 with Ehlers–Danlos syndrome (II group), and 11 with Osler–Weber–Rendu syndrome (hereditary hemorrhagic telangiectasia) (III group) of the age from 18 to 36. The study included retrospective analysis (for the period from 1993 to 2005) and prospective study. Results of study showed high risk of life-threatening complications during pregnancy and delivery, especially the risk of hemorrhage and cardiovascular complications. In all the patients, we observed the progression of bleeding or development of bleeding in new localizations (epistaxis in 27 patients, easy brushing in 22, skin and mucosa telangiectasia in 20, gastrointestinal bleedings in 4, hemoptysis in 4, hematomas for minor traumas in 14, conjunctivas hemorrhages in 5). Conclusion: The pathogenesis of bleeding in such patients has mixed pattern: besides vascular wall pathology coagulation deficiency plays some role. The preferred delivery method for such patients is caesarean section. Deep vaginal ruptures and serious hemorrhage accompany vaginal delivery.

© 2018, © 2018 Informa UK Limited, trading as Taylor  &  Francis Group. Background: Mesenchymal dysplasias or inherited connective tissue diseases are the group of diseases with deficiency of various components of connective tissue. Connective tissue disorders can affect different organs: skeleton, sight organ, skin, lungs, heart. But the most dangerous is vascular wall insufficiency leading to high risk of hemorrhage, especially during pregnancy and delivery due to hemodynamic and hormonal effects on the walls of the modified vessels. Aim: To evaluate the risk of complications during the pregnancy and delivery in patients with mesenchymal dysplasias. Study design: Fifty-six pregnancies in patients with mesenchymal dysplasias, including subclinical forms of diseases: 23 with Marfan syndrome (I group), 22 with Ehlers–Danlos syndrome (II group), and 11 with Osler–Weber–Rendu syndrome (hereditary hemorrhagic telangiectasia) (III group) of the age from 18 to 36. The study included retrospective analysis (for the period from 1993 to 2005) and prospective study. Results of study showed high risk of life-threatening complications during pregnancy and delivery, especially the risk of hemorrhage and cardiovascular complications. In all the patients, we observed the progression of bleeding or development of bleeding in new localizations (epistaxis in 27 patients, easy brushing in 22, skin and mucosa telangiectasia in 20, gastrointestinal bleedings in 4, hemoptysis in 4, hematomas for minor traumas in 14, conjunctivas hemorrhages in 5). Conclusion: The pathogenesis of bleeding in such patients has mixed pattern: besides vascular wall pathology coagulation deficiency plays some role. The preferred delivery method for such patients is caesarean section. Deep vaginal ruptures and serious hemorrhage accompany vaginal delivery.

© 2018, © 2018 Informa UK Limited, trading as Taylor  &  Francis Group. Background: Mesenchymal dysplasias or inherited connective tissue diseases are the group of diseases with deficiency of various components of connective tissue. Connective tissue disorders can affect different organs: skeleton, sight organ, skin, lungs, heart. But the most dangerous is vascular wall insufficiency leading to high risk of hemorrhage, especially during pregnancy and delivery due to hemodynamic and hormonal effects on the walls of the modified vessels. Aim: To evaluate the risk of complications during the pregnancy and delivery in patients with mesenchymal dysplasias. Study design: Fifty-six pregnancies in patients with mesenchymal dysplasias, including subclinical forms of diseases: 23 with Marfan syndrome (I group), 22 with Ehlers–Danlos syndrome (II group), and 11 with Osler–Weber–Rendu syndrome (hereditary hemorrhagic telangiectasia) (III group) of the age from 18 to 36. The study included retrospective analysis (for the period from 1993 to 2005) and prospective study. Results of study showed high risk of life-threatening complications during pregnancy and delivery, especially the risk of hemorrhage and cardiovascular complications. In all the patients, we observed the progression of bleeding or development of bleeding in new localizations (epistaxis in 27 patients, easy brushing in 22, skin and mucosa telangiectasia in 20, gastrointestinal bleedings in 4, hemoptysis in 4, hematomas for minor traumas in 14, conjunctivas hemorrhages in 5). Conclusion: The pathogenesis of bleeding in such patients has mixed pattern: besides vascular wall pathology coagulation deficiency plays some role. The preferred delivery method for such patients is caesarean section. Deep vaginal ruptures and serious hemorrhage accompany vaginal delivery.

© 2018, © 2018 Informa UK Limited, trading as Taylor  &  Francis Group. Background: Mesenchymal dysplasias or inherited connective tissue diseases are the group of diseases with deficiency of various components of connective tissue. Connective tissue disorders can affect different organs: skeleton, sight organ, skin, lungs, heart. But the most dangerous is vascular wall insufficiency leading to high risk of hemorrhage, especially during pregnancy and delivery due to hemodynamic and hormonal effects on the walls of the modified vessels. Aim: To evaluate the risk of complications during the pregnancy and delivery in patients with mesenchymal dysplasias. Study design: Fifty-six pregnancies in patients with mesenchymal dysplasias, including subclinical forms of diseases: 23 with Marfan syndrome (I group), 22 with Ehlers–Danlos syndrome (II group), and 11 with Osler–Weber–Rendu syndrome (hereditary hemorrhagic telangiectasia) (III group) of the age from 18 to 36. The study included retrospective analysis (for the period from 1993 to 2005) and prospective study. Results of study showed high risk of life-threatening complications during pregnancy and delivery, especially the risk of hemorrhage and cardiovascular complications. In all the patients, we observed the progression of bleeding or development of bleeding in new localizations (epistaxis in 27 patients, easy brushing in 22, skin and mucosa telangiectasia in 20, gastrointestinal bleedings in 4, hemoptysis in 4, hematomas for minor traumas in 14, conjunctivas hemorrhages in 5). Conclusion: The pathogenesis of bleeding in such patients has mixed pattern: besides vascular wall pathology coagulation deficiency plays some role. The preferred delivery method for such patients is caesarean section. Deep vaginal ruptures and serious hemorrhage accompany vaginal delivery.

© 2019, The Author(s). Background: Sudden cardiac death (SCD) refers to unanticipated death as a consequence of cardiac failure which takes place over a brief time period (typically within an hour of the commencement of symptoms) in an individual, who may or may not be known to be subject to cardiac disease, but in whom no fatal condition has been diagnosed. The objective of this investigation was to identify the potential cause of SCD in the young population in Moscow. Result: Analysis revealed that the mean age of the deceased amongst men was 24.6 years, and amongst women was 29.1 years. Seventy-six percent of sudden deaths were found to result from some previously undiagnosed pathology of the cardiovascular system, and cardiomyopathy is the most common cause of death in young people. Coronary heart disease is the most common cause of death in people above 40 years old. Conclusion: Investigation to diagnose the causes of SCD constitutes a relevant, comprehensive, and multidisciplinary undertaking, which ought to be founded upon the application of novel and current diagnostic methodologies. An integrated strategy to the quest for the underlying reason for sudden death ought to be founded upon the outcomes of biochemical, anatomical, genetic, pathophysiological, and other investigations. The search and development of objective risk factors will permit timely therapeutic intervention for patients with cardiovascular pathology to minimise and prevent the risk of sudden cardiac death.

© 2018, Dynasty Publishing House. All rights reserved. The objective. To determine vitamin D status in children with rheumatic disease who live on the territory of Russia. Patients and methods. A pilot study was conducted that included 52 children (35 girls and 17 boys) aged 5 to 17 years (11.88 ± 0.48 years), among them 29 children with systemic connective tissue disorders (SCTD) and 23 children with juvenile idiopathic arthritis (JIA). All patients underwent complex clinical-laboratory and instrumental examination in order to confirm the diagnosis and assess the patients’ health. Vitamin D status was assessed by 25(ОН)D serum levels using the method of chemiluminescence immunoassay. Results. Sufficient levels of 25(ОН)D (>30 ng/l) were found only in 5 (9.5%) children, vitamin D insufficiency (25(ОН)D 21–30 ng/l) was observed in 6 (11.5%) children, deficiency (25(ОН) <20 ng/l) in 41 (79.0%) children, among them in 7 (13.4%) it was severe (25(OH)D <10 ng/l), in spite of a long-term intake of low-doses of cholecalciferol (100–400 U/day) by 40 (76.9%) patients. Average levels of 25(ОН)D in patients with SCTD were significantly higher than in patients with JIA (20.86 ± 2.15 ng/l vs. 14.98 ± 0.91 ng/l, p = 0.0151), deficiency was more rarely found in these patients (69.0% vs. 91.3%), which was to a certain degree conditioned by more intensive vitamin D therapy. Conclusion. Insufficiency/deficiency of vitamin D is noted in an overwhelming majority of children with RD. Standard therapy with low doses of cholecalciferon offered to patients with RD is not sufficient for obtaining optimal 25(ОН)D levels and needs correction.

© 2018, © 2018 Informa UK Limited, trading as Taylor  &  Francis Group. Background: Mesenchymal dysplasias or inherited connective tissue diseases are the group of diseases with deficiency of various components of connective tissue. Connective tissue disorders can affect different organs: skeleton, sight organ, skin, lungs, heart. But the most dangerous is vascular wall insufficiency leading to high risk of hemorrhage, especially during pregnancy and delivery due to hemodynamic and hormonal effects on the walls of the modified vessels. Aim: To evaluate the risk of complications during the pregnancy and delivery in patients with mesenchymal dysplasias. Study design: Fifty-six pregnancies in patients with mesenchymal dysplasias, including subclinical forms of diseases: 23 with Marfan syndrome (I group), 22 with Ehlers–Danlos syndrome (II group), and 11 with Osler–Weber–Rendu syndrome (hereditary hemorrhagic telangiectasia) (III group) of the age from 18 to 36. The study included retrospective analysis (for the period from 1993 to 2005) and prospective study. Results of study showed high risk of life-threatening complications during pregnancy and delivery, especially the risk of hemorrhage and cardiovascular complications. In all the patients, we observed the progression of bleeding or development of bleeding in new localizations (epistaxis in 27 patients, easy brushing in 22, skin and mucosa telangiectasia in 20, gastrointestinal bleedings in 4, hemoptysis in 4, hematomas for minor traumas in 14, conjunctivas hemorrhages in 5). Conclusion: The pathogenesis of bleeding in such patients has mixed pattern: besides vascular wall pathology coagulation deficiency plays some role. The preferred delivery method for such patients is caesarean section. Deep vaginal ruptures and serious hemorrhage accompany vaginal delivery.

© 2018 Stavropol State Medical University. All Rights Reserved. 57 men and 43 women, aged 22.0±4.2 years were examined to determine the clinical and prognostic value of matrix metalloproteinases in heart remodeling in CTD. Serum concentrations of MMP-1, MMP-9, TIMP-1 were determined by ELI-SA («Cloud-Clone Corp.», China). Imbalance of MMP-1, MMP-9 and their inhibitor - TIMP-1 was revealed in patients with CTD. Significant increase in MMP-1 level was registered in cases of MVP with myxomatous degeneration and mitral regurgitation of II degree. Risk of cardiac remodeling progression at three-year follow-up increases in cases of elevated of MMP-1/TIMP-1 coefficient. Identified changes in the MMPs system in patients with CTD may be used as additional criteria of severity and determination of probability of progression of heart connective tissue structures remodeling.

© Bionika Media Ltd. Objective. To systematize the current medical knowledge and experience in the management of pregnancy and delivery in patients with mesenchymal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, Rendu-Osler syndrome). Material and methods. The paper includes the data of foreign investigations and medical guidelines for this problem, which have been published in the past 5 years. Results. The paper describes the molecular bases of each syndrome, diagnostic criteria, and their clinical manifestations in various organs and systems: musculoskeletal and cardiovascular systems, the organ of vision, etc. Such patients during pregnancy are at extremely high risk for life-threatening complications. Conclusion. A successful outcome of pregnancy requires early diagnosis and a multidisciplinary approach throughout during pregnancy and delivery.

© 2018, Media Sphera Publishing Group. All rights reserved. Hereditary thrombophilias (HT) and undifferentiated connective tissue dysplasia (uCTD) are important causes of female infertility. Moreover, there are signs of their common pathogenesis: a number of proteins, such as PAI-1, play an important role in the pathogenesis of both conditions, as well as in the development of infertility in patients with HT and uCTD Objective — to determine the morphological substrate and molecular mechanisms of impaired pregnancy outcomes in women with uCTD and HT. Subject and methods. A study group included 130 reproductive-aged female patients with primary infertility and a control group consisted of 11 patients (surrogate mothers). An endometrial pipelle biopsy sample was taken from each patient on days 6—8 after ovulation according to the ultrasound findings. The study group patients were divided into subgroups: 1A) infertility and HT (n=91); 1B) infertility, NT, and uCTD (n=19); 1C) infertility and uCTD (n=20). The investigators examined obstetric/gynecological history data, determined the levels of PAI-1 and homocysteine in the blood samples of patients in the subgroups with HT (1A and 1B); assessed the results of the methionine test, and identified the polymorphism or mutations of the following genes: FII, FV (Leiden), FVII, FXII, FXIII, GpIa, GpIb (-5), GpIb (T145M), GpIIIa, PAI-1, FBGb, MTHFR, MTRR, MTR, SLC19A1, angiotensin gene (M235T and T145M), angiotensin-converting enzyme, and their homo-or heterozygosity. Endometrial morphological and immunohistochemical examinations were carried out using primary antibodies to sex hormone receptors, LIF, PAI-1, and osteopontin. Results. The number of pregnancies in the study group was comparable to the number of patients in each subgroup. Childbirth was considered to be a favorable pregnancy outcome; missed miscarriage was an unfavorable one. There were the most favorable outcomes in Subgroup 1C with uCTD and the least one in Subgroup 1B. Comparison of hemostatic system indicators revealed statistically significant differences only in the incidence of disaggregated thrombopathy (88% in Group 1B and 55% in Group 1A). In the endometrium of the study group, there was delayed maturation; sclerotic foci and dyscirculatory disorders were more frequent in the stroma. Conclusion. In HT, uCTD, and, to a greater extent, its concurrence, a genetically determined predisposition to impaired implantation develops due to genetically determined endometrial remodeling that leads to infertility and impaired pregnancy outcomes.

© 2018, Nizhny Novgorod State Medical Academy. All rights reserved. The aim of the study was to demonstrate a good diagnostic potential of atomic force microscopy (AFM) in tracking morphological changes in the extracellular matrix (ECM) of connective tissue due to pathological processes. Here we summarize our experience in AFM application in a number of biomedical studies on the connective tissue disease, both for the research and clinical purposes. Materials and Methods. Depending on the project application (experimental or clinical), the tissue specimens were harvested either from animals, or from patients in the course of their surgical treatment, or post mortem. AFM images of fixed tissue slices on glass slides were acquired with a Solver P47 AFM instrument (NT-MDT, Russia), in the semi-contact mode. For mechanical properties mapping, the images were acquired on air in the PeakForce Quantitative Nanomechanical Mapping mode (PeakForce QNM®), using a MultiMode 8 atomic force microscope (Bruker, USA). The regions of interest for scanning were selected in accordance with the histological assignments for the same sample, based on the view of a sample in the built-in optical microscope of the AFM instrument setup. To quantify the changes in the ECM morphology visualized by AFM imaging, we applied flicker-noise spectroscopy parameterization. Results. AFM has been shown to reveal visible deviations from the normal morphology of the ECM in diseased tissues. We found that AFM and related techniques are capable of tracking disease-related changes at different levels of collagen organization in the ECM. At the microscale, AFM may detect loosening and disorganization of collagen fibers (e.g., in a dysplastic process), or the opposite process of their packing into tight parallel bundles in a fibrotic process. AFM may also monitor the ratio between collagen and non-fibrous material of the ECM, for example, in inflammatory and neoplastic processes. At the level of collagen fibrils, AFM may reveal early signs of the matrix destruction and remodeling not visible at the microscopic level. The flicker-noise spectroscopy parameters provide quantification of the morphological changes visualized by AFM. The PeakForce QNM® and nanoindentation studies give a further insight into the state of ECM via tracking changes in the local mechanical and adhesive properties. All our AFM studies appeared in a good agreement with the histological findings and generally had a superior sensitivity to pathology-related ECM rearrangements. Conclusion. AFM may serve as a valuable complementary diagnostic tool for tracking pathological changes in the connective tissue.