A. Khizhnikova, A. Klochkov, A. Kotov–Smolenskiy, N. Suponeva, M. Piradov
According to the literature data, only 5–20% of post-stroke patients are able to restore the hand motor function completely. Correct goal setting and individual approach to the patient's functional recovery are important. Our study aimed to develop an algorithm of impaired hand motor functioning assessment for post-stroke patients and to determine the principles of the rehabilitation tactics choosing based on the biomechanical analysis. Twenty five patients with hemispheric stroke and 10 healthy volunteers participated in the study. Formal clinical observation scales (Fugl-Meyer Assessment, Ashworth Scale, ARAT) and video motion analysis were used for evaluation of the hand motor function. Patients were divided into 2 groups according to the hand paresis severity (mild/moderate and pronounced/severe). Rehabilitation was carried out in both groups, including mechanotherapy, massage and physical therapy. It was revealed that in the 1st group of patients the motor function recovery in the paretic hand was due to movement performance recovery: biomechanical parameters restoration directly correlated with a decrease in the paresis degree according to the Fugl-Meyer Assessment Scale (r = 0.94; p = 0.01). In the 2nd group of patients, the motor function recovery in the paretic hand was due to motor deficit compensation: according to biomechanical analysis, the pathological motor synergies inversely correlated with a decrease in the paresis degree (r = –0.9; p = 0.03). As a result of the study, an algorithm for selecting the patient management tactics based on the baseline clinical indicators was developed.
{"title":"Dynamics of post-stroke hand paresis kinematic pattern during rehabilitation","authors":"A. Khizhnikova, A. Klochkov, A. Kotov–Smolenskiy, N. Suponeva, M. Piradov","doi":"10.24075/brsmu.2019.056","DOIUrl":"https://doi.org/10.24075/brsmu.2019.056","url":null,"abstract":"According to the literature data, only 5–20% of post-stroke patients are able to restore the hand motor function completely. Correct goal setting and individual approach to the patient's functional recovery are important. Our study aimed to develop an algorithm of impaired hand motor functioning assessment for post-stroke patients and to determine the principles of the rehabilitation tactics choosing based on the biomechanical analysis. Twenty five patients with hemispheric stroke and 10 healthy volunteers participated in the study. Formal clinical observation scales (Fugl-Meyer Assessment, Ashworth Scale, ARAT) and video motion analysis were used for evaluation of the hand motor function. Patients were divided into 2 groups according to the hand paresis severity (mild/moderate and pronounced/severe). Rehabilitation was carried out in both groups, including mechanotherapy, massage and physical therapy. It was revealed that in the 1st group of patients the motor function recovery in the paretic hand was due to movement performance recovery: biomechanical parameters restoration directly correlated with a decrease in the paresis degree according to the Fugl-Meyer Assessment Scale (r = 0.94; p = 0.01). In the 2nd group of patients, the motor function recovery in the paretic hand was due to motor deficit compensation: according to biomechanical analysis, the pathological motor synergies inversely correlated with a decrease in the paresis degree (r = –0.9; p = 0.03). As a result of the study, an algorithm for selecting the patient management tactics based on the baseline clinical indicators was developed.","PeriodicalId":90498,"journal":{"name":"Exosomes and microvesicles","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89735827","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}
Sometimes, a minor scientific event leaves a much more memorable trace than a large conference. On May 30–31, 2019, Pirogov Russian National Research Medical University hosted a symposium on medical identities in various communities. Reports, reviews and discussions presented at the symposium focused on the problem of identity, a unique phenomenon that results from self-reflecting on a complex dynamic process of personal development. Professional identity is particularly important for a medical doctor. This article inspired by the reports of our colleagues summarizes the results of the symposium.
{"title":"A medical career: barriers to professional identity","authors":"E. Mettini, B. Yasko, B. Kazarin, M. Ostroushko","doi":"10.24075/brsmu.2019.055","DOIUrl":"https://doi.org/10.24075/brsmu.2019.055","url":null,"abstract":"Sometimes, a minor scientific event leaves a much more memorable trace than a large conference. On May 30–31, 2019, Pirogov Russian National Research Medical University hosted a symposium on medical identities in various communities. Reports, reviews and discussions presented at the symposium focused on the problem of identity, a unique phenomenon that results from self-reflecting on a complex dynamic process of personal development. Professional identity is particularly important for a medical doctor. This article inspired by the reports of our colleagues summarizes the results of the symposium.","PeriodicalId":90498,"journal":{"name":"Exosomes and microvesicles","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73872073","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}
E. Kremneva, B. M. Akhmetzyanov, L. Dobrynina, M. Krotenkova
Hemodynamic parameters of blood and cerebrospinal fluid (CSF) flow can be measured in vivo using phase-contrast MRI (PC-MRI). This opens new horizons for studying the mechanisms implicated in the development and progression of age-related cerebral small vessel disease (SVD). In this paper, we analyze associations between cerebral arterial, venous and CSF flow impairments and SVD features visible on MRI. The study was carried out in 96 patients with SVD (aged 60.91 ± 6.57 years) and 23 healthy volunteers (59.13 ± 6.56 years). The protocol of the MRI examination included routine MRI sequences (T2, FLAIR, T1, SWI, and DWI) applied to assess the severity of brain damage according to STRIVE advisory standards and PC-MRI used to quantify blood flow in the major arteries and veins of the neck, the straight and upper sagittal sinuses, and CSF flow at the aqueduct level. We analyzed the associations between linear and volumetric parameters of blood/CSF flow and the degree of brain matter damage using the Fazekas scale. We observed a reduction in tABF, stVBF, sssVBF, aqLF, Saq, and ICC values and a rise in Pi associated with WMH progression, as well as a gradual decline in tABF and an increase in Pi, Saq and ICC associated with a growing number of lacunes (р < 0.05). Patients with early (< 5) MB had lower sssVBF and stVBF rates in comparison with patients without MB; aqLF, Saq, and ICC values were elevated in patients with 5 to 10 MB, as compared to patients without MB or early (< 5) MB. The established associations between MRI findings in patients with SVD and blood/CSF flow impairments suggest the important role of mechanisms implicated in the disruption of Monro–Kellie intracranial homeostasis in promoting SVD.
{"title":"Associations between blood and cerebrospinal fluid flow impairments assessed with phase-contrast MRI and brain damage in patients with age-related cerebral small vessel disease","authors":"E. Kremneva, B. M. Akhmetzyanov, L. Dobrynina, M. Krotenkova","doi":"10.24075/brsmu.2019.054","DOIUrl":"https://doi.org/10.24075/brsmu.2019.054","url":null,"abstract":"Hemodynamic parameters of blood and cerebrospinal fluid (CSF) flow can be measured in vivo using phase-contrast MRI (PC-MRI). This opens new horizons for studying the mechanisms implicated in the development and progression of age-related cerebral small vessel disease (SVD). In this paper, we analyze associations between cerebral arterial, venous and CSF flow impairments and SVD features visible on MRI. The study was carried out in 96 patients with SVD (aged 60.91 ± 6.57 years) and 23 healthy volunteers (59.13 ± 6.56 years). The protocol of the MRI examination included routine MRI sequences (T2, FLAIR, T1, SWI, and DWI) applied to assess the severity of brain damage according to STRIVE advisory standards and PC-MRI used to quantify blood flow in the major arteries and veins of the neck, the straight and upper sagittal sinuses, and CSF flow at the aqueduct level. We analyzed the associations between linear and volumetric parameters of blood/CSF flow and the degree of brain matter damage using the Fazekas scale. We observed a reduction in tABF, stVBF, sssVBF, aqLF, Saq, and ICC values and a rise in Pi associated with WMH progression, as well as a gradual decline in tABF and an increase in Pi, Saq and ICC associated with a growing number of lacunes (р < 0.05). Patients with early (< 5) MB had lower sssVBF and stVBF rates in comparison with patients without MB; aqLF, Saq, and ICC values were elevated in patients with 5 to 10 MB, as compared to patients without MB or early (< 5) MB. The established associations between MRI findings in patients with SVD and blood/CSF flow impairments suggest the important role of mechanisms implicated in the disruption of Monro–Kellie intracranial homeostasis in promoting SVD.","PeriodicalId":90498,"journal":{"name":"Exosomes and microvesicles","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83037150","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}
N. V. Bagryantseva, S. Gazhva, A. A. Baranov, L. Shubin, V. A. Bagryantsev, O. Bagryantseva
Contemporary prosthetic dentistry has a vast arsenal of solutions for completely edentulous patients. However, it is crucial to consider a variety of factors that can cause complications in patients wearing temporary dentures in the osseointegration period. The aim of this study was to retrospectively analyze the medical records of completely edentulous patients wearing temporary removable or fixed dentures in the osseointegration period, to identify the risk factors for complications and to calculate the odds of adverse events. We performed a multivariate analysis and developed a computerized algorithm that could be used to facilitate selection of the proper denture type and material. The algorithm demonstrates high sensitivity and specificity: 94.37 (76.2 : 98.7) and 92.56 (79.8 : 97.6), respectively; the AUC value is 0.921 (0.843 : 0.963). We are planning to develop a software based on the proposed algorithm that would help the dentist to make a more objective decision when selecting the type of temporary denture and its material.
{"title":"The feasibility of using computer-based models for reducing the risks of complications associated with temporary dentures","authors":"N. V. Bagryantseva, S. Gazhva, A. A. Baranov, L. Shubin, V. A. Bagryantsev, O. Bagryantseva","doi":"10.24075/brsmu.2019.050","DOIUrl":"https://doi.org/10.24075/brsmu.2019.050","url":null,"abstract":"Contemporary prosthetic dentistry has a vast arsenal of solutions for completely edentulous patients. However, it is crucial to consider a variety of factors that can cause complications in patients wearing temporary dentures in the osseointegration period. The aim of this study was to retrospectively analyze the medical records of completely edentulous patients wearing temporary removable or fixed dentures in the osseointegration period, to identify the risk factors for complications and to calculate the odds of adverse events. We performed a multivariate analysis and developed a computerized algorithm that could be used to facilitate selection of the proper denture type and material. The algorithm demonstrates high sensitivity and specificity: 94.37 (76.2 : 98.7) and 92.56 (79.8 : 97.6), respectively; the AUC value is 0.921 (0.843 : 0.963). We are planning to develop a software based on the proposed algorithm that would help the dentist to make a more objective decision when selecting the type of temporary denture and its material.","PeriodicalId":90498,"journal":{"name":"Exosomes and microvesicles","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74591281","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}
Boris A. Efimov, A. V. Chaplin, S. R. Sokolova, Z. A. Chernaia, A. Pikina, A. M. Savilova, L. Kafarskaya
In recent decades, nucleic acid sequencing technologies used for metagenomic analysis have become the main methods for assessing the composition of microbiota. At the same time, the use of novel methods of cultivation and identification of microorganisms in microbiological research led to the renaissance of culture-based technologies, because facilitated the discovery and isolation of both new strains of well-known microorganisms as well as uncultivated and unexplored bacterial taxa. The aim of this study was to evaluate the potential of using the culture-based method for the assessment of the qualitative and quantitative composition of the intestinal microbiota in healthy children. Eleven growth media were inoculated with serial dilutions of stool samples in order to analyze the profile of dominant anaerobic bacteria, as well as aerobic bacteria and fungi in 20 healthy children aged 2–4 years. The identification of microorganisms was performed using MALDI TOF MS and 16S rRNA gene fragment sequencing were used. 1,819 isolated and identified strains belong to 7 phyla, 13 classes, 18 orders, 33 families, 77 genera and 149 species in the Bacteria domain. The Bacteroidetes, Firmicutes, Actinobacteria and Proteobacteria phyla were most abundant and frequent. The greatest species diversity (more than 85 species) was found in the Firmicutes phylum. Ten new previously uncharacterized bacterial strains were isolated.
{"title":"Application of culture-based, mass spectrometry and molecular methods to the study of gut microbiota in children","authors":"Boris A. Efimov, A. V. Chaplin, S. R. Sokolova, Z. A. Chernaia, A. Pikina, A. M. Savilova, L. Kafarskaya","doi":"10.24075/brsmu.2019.048","DOIUrl":"https://doi.org/10.24075/brsmu.2019.048","url":null,"abstract":"In recent decades, nucleic acid sequencing technologies used for metagenomic analysis have become the main methods for assessing the composition of microbiota. At the same time, the use of novel methods of cultivation and identification of microorganisms in microbiological research led to the renaissance of culture-based technologies, because facilitated the discovery and isolation of both new strains of well-known microorganisms as well as uncultivated and unexplored bacterial taxa. The aim of this study was to evaluate the potential of using the culture-based method for the assessment of the qualitative and quantitative composition of the intestinal microbiota in healthy children. Eleven growth media were inoculated with serial dilutions of stool samples in order to analyze the profile of dominant anaerobic bacteria, as well as aerobic bacteria and fungi in 20 healthy children aged 2–4 years. The identification of microorganisms was performed using MALDI TOF MS and 16S rRNA gene fragment sequencing were used. 1,819 isolated and identified strains belong to 7 phyla, 13 classes, 18 orders, 33 families, 77 genera and 149 species in the Bacteria domain. The Bacteroidetes, Firmicutes, Actinobacteria and Proteobacteria phyla were most abundant and frequent. The greatest species diversity (more than 85 species) was found in the Firmicutes phylum. Ten new previously uncharacterized bacterial strains were isolated.","PeriodicalId":90498,"journal":{"name":"Exosomes and microvesicles","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72625026","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}
D. Goloshchapov, V. Kashkarov, Y. Ippolitov, I. Ippolitov, J. Vongsvivut, P. Seredin
The low affinity of composite materials for the hard tissue of human teeth poses a challenge to restorative dentists. This study was undertaken to explore molecular and chemical characteristics of the interface between the dental cement, the buffer layer formed from a next generation biomimetic material that mimics the organic mineral composition of human enamel and dentin, and the intact native hard dental tissue. Seven plane-parallel dental slices were analyzed using synchrotron IR microspectroscopy. The obtained absorption spectra of functional molecular groups were organized into cluster maps. This allowed us to identify the intact tissue, the adhesive agent and the biomimetic layer at their interface and to localize and measure concentrations of functional groups involved in the integration of the biomimetic composite into the hard tissue of the human tooth. The proposed biomimetic material is based on nanocrystal carbonate-substituted calcium hydroxyapatite synthesized from a biogenic calcium source and a complex of basic polar amino acids copying the composition of the human tooth and can form a functional bond with hard dental tissue.
{"title":"Synchrotron IR-microspectroscopy-based visualization of molecular and chemical interactions between dental cement, biomimetic composite and native dental tissue","authors":"D. Goloshchapov, V. Kashkarov, Y. Ippolitov, I. Ippolitov, J. Vongsvivut, P. Seredin","doi":"10.24075/brsmu.2019.047","DOIUrl":"https://doi.org/10.24075/brsmu.2019.047","url":null,"abstract":"The low affinity of composite materials for the hard tissue of human teeth poses a challenge to restorative dentists. This study was undertaken to explore molecular and chemical characteristics of the interface between the dental cement, the buffer layer formed from a next generation biomimetic material that mimics the organic mineral composition of human enamel and dentin, and the intact native hard dental tissue. Seven plane-parallel dental slices were analyzed using synchrotron IR microspectroscopy. The obtained absorption spectra of functional molecular groups were organized into cluster maps. This allowed us to identify the intact tissue, the adhesive agent and the biomimetic layer at their interface and to localize and measure concentrations of functional groups involved in the integration of the biomimetic composite into the hard tissue of the human tooth. The proposed biomimetic material is based on nanocrystal carbonate-substituted calcium hydroxyapatite synthesized from a biogenic calcium source and a complex of basic polar amino acids copying the composition of the human tooth and can form a functional bond with hard dental tissue.","PeriodicalId":90498,"journal":{"name":"Exosomes and microvesicles","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87291213","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}
O. Milushkina, N. Skoblina, S. Markelova, A. Tatarinchik, E. P. Melikhova, I. I. Libina, M. Popov
The impact of excessive exposure to electronic devices (ED) on youth health remains understudied. There is a pressing need to develop recommendations for the safe use of stationary and mobile ED aimed at minimizing health risks. In this work, we assess the effect of ED on the physical growth and development of high-school and university students and provide recommendations for preventing the negative impact of prolonged screen time on health. The study recruited 460 high-school and 598 university students. Standard anthropometric measurements were taken. The psychological and emotional state of the participants was evaluated using the Test Anxiety Inventory by Spielberg (modified by Khanin). To estimate daily and weekly exposure to ED the participants were asked to fill out standardized questionnaires. In high school students, the average screen time was 7 h a day; in university students, 8.5 to 10 h a day. Only 60% of the participants, regardless of their place of residence or the type of educational institution they were attending, were physically healthy. We conclude that prolonged and frequent exposure to ED is one of the factors that can interfere with normal physical growth and development in youth. Regular daily use of stationary ED increases the risk of developing body weight deficit by 24% and gaining excess body weight by 10%. We recommend that students should eliminate computers, laptops and stationary ED from their daily activities for at least one day at the weekend and reduce total screen time to 3 hours a day.
{"title":"The impact of electronic devices on the physical growth and development of modern youth and recommendations on their safe use","authors":"O. Milushkina, N. Skoblina, S. Markelova, A. Tatarinchik, E. P. Melikhova, I. I. Libina, M. Popov","doi":"10.24075/brsmu.2019.046","DOIUrl":"https://doi.org/10.24075/brsmu.2019.046","url":null,"abstract":"The impact of excessive exposure to electronic devices (ED) on youth health remains understudied. There is a pressing need to develop recommendations for the safe use of stationary and mobile ED aimed at minimizing health risks. In this work, we assess the effect of ED on the physical growth and development of high-school and university students and provide recommendations for preventing the negative impact of prolonged screen time on health. The study recruited 460 high-school and 598 university students. Standard anthropometric measurements were taken. The psychological and emotional state of the participants was evaluated using the Test Anxiety Inventory by Spielberg (modified by Khanin). To estimate daily and weekly exposure to ED the participants were asked to fill out standardized questionnaires. In high school students, the average screen time was 7 h a day; in university students, 8.5 to 10 h a day. Only 60% of the participants, regardless of their place of residence or the type of educational institution they were attending, were physically healthy. We conclude that prolonged and frequent exposure to ED is one of the factors that can interfere with normal physical growth and development in youth. Regular daily use of stationary ED increases the risk of developing body weight deficit by 24% and gaining excess body weight by 10%. We recommend that students should eliminate computers, laptops and stationary ED from their daily activities for at least one day at the weekend and reduce total screen time to 3 hours a day.","PeriodicalId":90498,"journal":{"name":"Exosomes and microvesicles","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86447732","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}
А. Музаффарова, О. В. Новикова, Ю. Сачков, Ф. М. Кипкеева, Е. К. Гинтер, А. В. Карпухин, OV Novikova, Sachkov IYu, EK Ginter
Desmoid-type fibromatosis (DF) is a rare mesenchymal tumor occurring in only 2 to 4 people per 1,000,000 population a year. Desmoid tumors are either seen sporadically or in individuals with familial adenomatous polyposis (FAP). The etiology of sporadic DF is uncertain. The aim of this study was to estimate the potential significance of germline mutations in the APC gene in patients with sporadic DF. APC exons were amplified, studied using conformation sensitive gel electrophoresis and then Sanger-sequenced. The obtained data were processed in Statistica 10. Mutations were detected in 6 (12%) of 51 participants with sporadic DF. Those 6 patients shared a typical DF phenotype characterized by early age of onset (5.8 years on average, in contrast to the patients without APC mutations, who developed DF at 19 years of age; p = 0.02), severe clinical course, multifocal localization on the trunk, and poor prognosis. All of the detected APC mutations were localized to the 3'-end of the gene. For the purpose of comparison, we analyzed a sample of 12 patients with FAP-associated DF. Of those patients, 6 carried mutations in the APC gene. In the analyzed sample, the patients with FAP and the mutant APC gene developed DF at older age (35 years) than the patients with sporadic DF (p = 0.004) and their tumors were not multifocal. This means that sporadic and FAP-associated desmoids have different phenotypes in patients with APC mutations. Patients with sporadic tumors have mutations at the 3'-end of the APC gene more often than individuals with FAP-associated DF. To our knowledge, this is the first study to characterize the subtype of sporadic desmoid fibromatosis phenotypically determined by germline mutations in the APC gene.
{"title":"Molecular-genetic and phenotypic characteristics of desmoid-type fibromatosis","authors":"А. Музаффарова, О. В. Новикова, Ю. Сачков, Ф. М. Кипкеева, Е. К. Гинтер, А. В. Карпухин, OV Novikova, Sachkov IYu, EK Ginter","doi":"10.24075/brsmu.2019.045","DOIUrl":"https://doi.org/10.24075/brsmu.2019.045","url":null,"abstract":"Desmoid-type fibromatosis (DF) is a rare mesenchymal tumor occurring in only 2 to 4 people per 1,000,000 population a year. Desmoid tumors are either seen sporadically or in individuals with familial adenomatous polyposis (FAP). The etiology of sporadic DF is uncertain. The aim of this study was to estimate the potential significance of germline mutations in the APC gene in patients with sporadic DF. APC exons were amplified, studied using conformation sensitive gel electrophoresis and then Sanger-sequenced. The obtained data were processed in Statistica 10. Mutations were detected in 6 (12%) of 51 participants with sporadic DF. Those 6 patients shared a typical DF phenotype characterized by early age of onset (5.8 years on average, in contrast to the patients without APC mutations, who developed DF at 19 years of age; p = 0.02), severe clinical course, multifocal localization on the trunk, and poor prognosis. All of the detected APC mutations were localized to the 3'-end of the gene. For the purpose of comparison, we analyzed a sample of 12 patients with FAP-associated DF. Of those patients, 6 carried mutations in the APC gene. In the analyzed sample, the patients with FAP and the mutant APC gene developed DF at older age (35 years) than the patients with sporadic DF (p = 0.004) and their tumors were not multifocal. This means that sporadic and FAP-associated desmoids have different phenotypes in patients with APC mutations. Patients with sporadic tumors have mutations at the 3'-end of the APC gene more often than individuals with FAP-associated DF. To our knowledge, this is the first study to characterize the subtype of sporadic desmoid fibromatosis phenotypically determined by germline mutations in the APC gene.","PeriodicalId":90498,"journal":{"name":"Exosomes and microvesicles","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80029184","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}
Extracellular vesicles (EV), including exosomes, microvesicles and apoptotic bodies, are released from numerous cell types and are involved in intercellular communication, physiological functions and the pathology of disease. They have been shown to carry and transfer a wide range of cargo including proteins, lipids and nucleic acids. The role of EVs in cardiac physiology and heart disease is an emerging field that has produced intriguing findings in recent years. This review will outline what is currently known about EVs in the cardiovascular system, including cellular origins, functional roles and utility as biomarkers and potential therapeutics.
{"title":"Extracellular Vesicles in Heart Disease: Excitement for the Future ?","authors":"Kirsty M Danielson, Saumya Das","doi":"10.5772/58390","DOIUrl":"https://doi.org/10.5772/58390","url":null,"abstract":"<p><p>Extracellular vesicles (EV), including exosomes, microvesicles and apoptotic bodies, are released from numerous cell types and are involved in intercellular communication, physiological functions and the pathology of disease. They have been shown to carry and transfer a wide range of cargo including proteins, lipids and nucleic acids. The role of EVs in cardiac physiology and heart disease is an emerging field that has produced intriguing findings in recent years. This review will outline what is currently known about EVs in the cardiovascular system, including cellular origins, functional roles and utility as biomarkers and potential therapeutics.</p>","PeriodicalId":90498,"journal":{"name":"Exosomes and microvesicles","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5772/58390","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32841199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The role of extracellular vesicles as an important mediator of cell-to-cell communication has been well established by many studies that have shown their capability for exchanging proteins, bioactive lipids and nucleic acids. Extracellular vesicles have been implicated in several physiological and pathological processes according to the cell of origin. Identification of the innate properties of extracellular vesicles derived from stem cells and from immune cells has led to the possibility of their exploitation in regenerative medicine and immune therapies. As extracellular vesicles are able to cross biological barriers, express surface receptors and contain defined cargoes able to target specific cells/tissues, they may represent a biocompatible and effective tool for drug delivery. Herein, we review and discuss the perspectives related to the therapeutic opportunities of extracellular vesicles.
{"title":"Perspectives on the Potential Therapeutic Uses of Vesicles.","authors":"Giovanni Camussi, Peter J Quesenberry","doi":"10.5772/57393","DOIUrl":"https://doi.org/10.5772/57393","url":null,"abstract":"<p><p>The role of extracellular vesicles as an important mediator of cell-to-cell communication has been well established by many studies that have shown their capability for exchanging proteins, bioactive lipids and nucleic acids. Extracellular vesicles have been implicated in several physiological and pathological processes according to the cell of origin. Identification of the innate properties of extracellular vesicles derived from stem cells and from immune cells has led to the possibility of their exploitation in regenerative medicine and immune therapies. As extracellular vesicles are able to cross biological barriers, express surface receptors and contain defined cargoes able to target specific cells/tissues, they may represent a biocompatible and effective tool for drug delivery. Herein, we review and discuss the perspectives related to the therapeutic opportunities of extracellular vesicles.</p>","PeriodicalId":90498,"journal":{"name":"Exosomes and microvesicles","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5772/57393","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33331163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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