J. Žolková, J. Sokol, Tomas Simurda, Ľ. Vádelová, Z. Sňahničanová, Dušan Loderer, M. Dobrotová, I. Škorňová, Z. Lasabová, P. Kubisz, J. Staško
Abstract Genetic testing in patients with von Willebrand disease completes phenotypic testing with an aim to confirm the von Willebrand factor defect at a molecular level. Structure of the VWF gene was described 30 years ago; since then a large number of mutations leading to VWD have been described in this gene. Thanks to describing these mechanisms it is possible to understand the pathogenesis of the most common congenital bleeding disorder. In the Slovak Republic genetic testing is still not a routine part of VWD diagnostics. The National Center of Hemostasis and Thrombosis in Martin is the first department in Slovakia which has begun genetic testing of patients with VWD. Sequencing of the VWF gene has many limitations which are referred in more details within this article. Therefore, we decided to use the methods of new generation sequencing in combination with Sanger sequencing. We believe that soon we will have the first results which will help us to identify the possible cause of VWD in these patients.
{"title":"The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease","authors":"J. Žolková, J. Sokol, Tomas Simurda, Ľ. Vádelová, Z. Sňahničanová, Dušan Loderer, M. Dobrotová, I. Škorňová, Z. Lasabová, P. Kubisz, J. Staško","doi":"10.2478/ACM-2019-0001","DOIUrl":"https://doi.org/10.2478/ACM-2019-0001","url":null,"abstract":"Abstract Genetic testing in patients with von Willebrand disease completes phenotypic testing with an aim to confirm the von Willebrand factor defect at a molecular level. Structure of the VWF gene was described 30 years ago; since then a large number of mutations leading to VWD have been described in this gene. Thanks to describing these mechanisms it is possible to understand the pathogenesis of the most common congenital bleeding disorder. In the Slovak Republic genetic testing is still not a routine part of VWD diagnostics. The National Center of Hemostasis and Thrombosis in Martin is the first department in Slovakia which has begun genetic testing of patients with VWD. Sequencing of the VWF gene has many limitations which are referred in more details within this article. Therefore, we decided to use the methods of new generation sequencing in combination with Sanger sequencing. We believe that soon we will have the first results which will help us to identify the possible cause of VWD in these patients.","PeriodicalId":30233,"journal":{"name":"Acta Medica Martiniana","volume":"19 1","pages":"5 - 11"},"PeriodicalIF":0.0,"publicationDate":"2019-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44735963","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}
M. Mikolajcikova, V. Ferencíková, K. Fiolková, V. Sokolikova, Z. Matuskova, Oto Osina
Abstract Introduction: Voice disorders primarily affect workers in professions with increased voice demands, such as teaching personnel in educational system, singers, lecturers, actors or managers. Severe voice disorders often require a permanent change of work position. Methods: Retrospective analysis of a set of patients with occupational voice disorders who were hospitalized at the Clinic of Occupational Medicine and Toxicology, Martin University Hospital (COMaT, MUH) in the years of 2000–2017. Comparison of the data obtained with the National Centre of Medical Information (NCMI) data on the occurrence of occupational voice disorders throughout the Slovak Republic (SR). Comparison with the retrospective analysis of reported occupational voice disorders in the years of 1967-1996. Case report of a patient with an occupational voice disorder. Results: We point to a long-term low incidence of occupational voice disorders. In the years of 2000-2017, 24 cases of occupational voice disorders were reported in Slovakia, of which 20 cases were reported under item 42-1 and 4 cases under item 42-2 in the List of Occupational Diseases. Through the COMaT, MUH 11 cases of occupational voice disorders were reported during these years, of which 9 cases were listed under item 42-1 and 2 cases under item 42-2. From 1967 to 1996 there were 52 occupational voice disorders reported in Slovakia, of which 45 were under item 42-1 and 7 under item 42-2. Conclusions: As there is a tendency to underestimate the voice difficulties among teaching staff, it is necessary to provide better information about the possible consequences, prevention, and treatment of these diseases. All of this should be in the competency of occupational health services.
{"title":"Occupational Voice Disorders in Slovakia Today and in the Past","authors":"M. Mikolajcikova, V. Ferencíková, K. Fiolková, V. Sokolikova, Z. Matuskova, Oto Osina","doi":"10.2478/ACM-2019-0005","DOIUrl":"https://doi.org/10.2478/ACM-2019-0005","url":null,"abstract":"Abstract Introduction: Voice disorders primarily affect workers in professions with increased voice demands, such as teaching personnel in educational system, singers, lecturers, actors or managers. Severe voice disorders often require a permanent change of work position. Methods: Retrospective analysis of a set of patients with occupational voice disorders who were hospitalized at the Clinic of Occupational Medicine and Toxicology, Martin University Hospital (COMaT, MUH) in the years of 2000–2017. Comparison of the data obtained with the National Centre of Medical Information (NCMI) data on the occurrence of occupational voice disorders throughout the Slovak Republic (SR). Comparison with the retrospective analysis of reported occupational voice disorders in the years of 1967-1996. Case report of a patient with an occupational voice disorder. Results: We point to a long-term low incidence of occupational voice disorders. In the years of 2000-2017, 24 cases of occupational voice disorders were reported in Slovakia, of which 20 cases were reported under item 42-1 and 4 cases under item 42-2 in the List of Occupational Diseases. Through the COMaT, MUH 11 cases of occupational voice disorders were reported during these years, of which 9 cases were listed under item 42-1 and 2 cases under item 42-2. From 1967 to 1996 there were 52 occupational voice disorders reported in Slovakia, of which 45 were under item 42-1 and 7 under item 42-2. Conclusions: As there is a tendency to underestimate the voice difficulties among teaching staff, it is necessary to provide better information about the possible consequences, prevention, and treatment of these diseases. All of this should be in the competency of occupational health services.","PeriodicalId":30233,"journal":{"name":"Acta Medica Martiniana","volume":"19 1","pages":"38 - 44"},"PeriodicalIF":0.0,"publicationDate":"2019-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44613373","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}
Abstract Tuberculosis, a disease caused by Mycobacterium tuberculosis, represents one of the deadliest infections worldwide. The incidence of resistant forms is increasing year by year; therefore, it is necessary to involve new methods for rapid diagnostics and treatment. One of the possible solutions is the use of whole-genome sequencing (WGS). The WGS provides an identification of complete genome of the microorganism, including all genes responsible for resistance, in comparison with other genotypic methods (eg. Xpert MTB / RIF or Hain line-probes) that are capable to detect only basic genes. WGS data are available in 1-9 days and several online software tools (TBProfiler, CASTB, Mykrobe PredictorTB) are used for their interpretation and analysis, compared to 3-8 weeks in the case of classic phenotypic evaluation. Furthermore, WGS predicts resistance to the first-line antituberculotics with a sensitivity of 85-100% and a specificity of 85-100%. This review elucidates the importance and summarizes the current knowledge about the possible use of WGS in diagnosis and treatment of resistant forms of tuberculosis elucidates. WGS of M. tuberculosis brings new possibilities for rapid and accurate diagnostics of resistant forms of tuberculosis. Introducing WGS into routine practice can help to reduce the spread of resistant forms of tuberculosis as well as to increase the success rate of the treatment, especially through an appropriate combination of antituberculotics ATs. Introduction of WGS into routine diagnostics can, in spite of the financial difficulty, significantly improve patient care.
{"title":"Whole-Genome Sequencing in Relation to Resistance of Mycobacterium Tuberculosis","authors":"M. Dohál, I. Porvazník, P. Kusnir, J. Mokrý","doi":"10.2478/ACM-2019-0002","DOIUrl":"https://doi.org/10.2478/ACM-2019-0002","url":null,"abstract":"Abstract Tuberculosis, a disease caused by Mycobacterium tuberculosis, represents one of the deadliest infections worldwide. The incidence of resistant forms is increasing year by year; therefore, it is necessary to involve new methods for rapid diagnostics and treatment. One of the possible solutions is the use of whole-genome sequencing (WGS). The WGS provides an identification of complete genome of the microorganism, including all genes responsible for resistance, in comparison with other genotypic methods (eg. Xpert MTB / RIF or Hain line-probes) that are capable to detect only basic genes. WGS data are available in 1-9 days and several online software tools (TBProfiler, CASTB, Mykrobe PredictorTB) are used for their interpretation and analysis, compared to 3-8 weeks in the case of classic phenotypic evaluation. Furthermore, WGS predicts resistance to the first-line antituberculotics with a sensitivity of 85-100% and a specificity of 85-100%. This review elucidates the importance and summarizes the current knowledge about the possible use of WGS in diagnosis and treatment of resistant forms of tuberculosis elucidates. WGS of M. tuberculosis brings new possibilities for rapid and accurate diagnostics of resistant forms of tuberculosis. Introducing WGS into routine practice can help to reduce the spread of resistant forms of tuberculosis as well as to increase the success rate of the treatment, especially through an appropriate combination of antituberculotics ATs. Introduction of WGS into routine diagnostics can, in spite of the financial difficulty, significantly improve patient care.","PeriodicalId":30233,"journal":{"name":"Acta Medica Martiniana","volume":"19 1","pages":"12 - 21"},"PeriodicalIF":0.0,"publicationDate":"2019-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2478/ACM-2019-0002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47644263","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}
M. Krivosova, P. Kusnir, M. Kertys, M. Mestanik, I. Tonhajzerova, I. Hrtanek, I. Ondrejka, J. Mokrý
Abstract Introduction: With an increasing prevalence of major depressive disorder (MDD) in population there is a particular interest in finding a suitable biomarker for diagnosis and prognosis of the disease. Many studies have shown that MDD is linked to a systemic inflammatory process, so blood elements counts and ratios have been suggested to be promising indicators in the management and effectiveness of the disease therapy. The aim of this retrospective study was to compare absolute and relative white blood cells counts and to search for any changes in their ratios before and after the therapy of the patients. Methods: Our study included 36 patients who were admitted to hospital with either a new diagnosis or a recurrent episode of MDD and who were treated by a standard protocol. The peripheral blood samples were collected both at admission and at hospital discharge. Absolute white blood cell count and counts of neutrophils, lymphocytes, monocytes, platelets, as well as mean platelet volume, red blood cell distribution width, neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and monocyte/lymphocyte ratio before and after hospitalization (14–29 days) were evaluated and compared. The test of normality was performed and, accordingly, single t-test or Mann-Whitney U-test was used for data analysis. Results: There were no significant differences between any blood cell ratios in blood samples before and after stay in hospital and appropriate treatment. Monocyte count was significantly higher in MDD patients after hospital discharge (p=0.007), there was a significantly higher difference in discharged patients suffering from MDD recurrent episode (F.33) compared to newly diagnosed MDD (F.32) patients (p=0.010). In patients treated with venlafaxine (N=23) there was a significant increase in monocyte/lymphocyte ratio observed at the end of hospitalization (p=0.018). Conclusions: The pharmacotherapy and additive treatment of the patients suffering from MDD led only to mild changes in blood cells counts. As our study included only a small number of patients, and blood cell parameters and ratios were compared after a relatively short duration of treatment, further and more detailed research is needed for final conclusions.
{"title":"Blood Cell Counts and Blood Cell Ratios as Non-Specific Major Depressive Disorder Biomarkers","authors":"M. Krivosova, P. Kusnir, M. Kertys, M. Mestanik, I. Tonhajzerova, I. Hrtanek, I. Ondrejka, J. Mokrý","doi":"10.2478/ACM-2019-0003","DOIUrl":"https://doi.org/10.2478/ACM-2019-0003","url":null,"abstract":"Abstract Introduction: With an increasing prevalence of major depressive disorder (MDD) in population there is a particular interest in finding a suitable biomarker for diagnosis and prognosis of the disease. Many studies have shown that MDD is linked to a systemic inflammatory process, so blood elements counts and ratios have been suggested to be promising indicators in the management and effectiveness of the disease therapy. The aim of this retrospective study was to compare absolute and relative white blood cells counts and to search for any changes in their ratios before and after the therapy of the patients. Methods: Our study included 36 patients who were admitted to hospital with either a new diagnosis or a recurrent episode of MDD and who were treated by a standard protocol. The peripheral blood samples were collected both at admission and at hospital discharge. Absolute white blood cell count and counts of neutrophils, lymphocytes, monocytes, platelets, as well as mean platelet volume, red blood cell distribution width, neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and monocyte/lymphocyte ratio before and after hospitalization (14–29 days) were evaluated and compared. The test of normality was performed and, accordingly, single t-test or Mann-Whitney U-test was used for data analysis. Results: There were no significant differences between any blood cell ratios in blood samples before and after stay in hospital and appropriate treatment. Monocyte count was significantly higher in MDD patients after hospital discharge (p=0.007), there was a significantly higher difference in discharged patients suffering from MDD recurrent episode (F.33) compared to newly diagnosed MDD (F.32) patients (p=0.010). In patients treated with venlafaxine (N=23) there was a significant increase in monocyte/lymphocyte ratio observed at the end of hospitalization (p=0.018). Conclusions: The pharmacotherapy and additive treatment of the patients suffering from MDD led only to mild changes in blood cells counts. As our study included only a small number of patients, and blood cell parameters and ratios were compared after a relatively short duration of treatment, further and more detailed research is needed for final conclusions.","PeriodicalId":30233,"journal":{"name":"Acta Medica Martiniana","volume":"19 1","pages":"22 - 29"},"PeriodicalIF":0.0,"publicationDate":"2019-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43797019","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}
A. Hamrakova, I. Ondrejka, N. Sekaninova, L. Peregrim, I. Tonhajzerova
Abstract Attention deficit/hyperactivity disorder (ADHD) is one of the most frequently seen mental disorders in children with an increasing risk for other mental disorders. ADHD represents a primary biological dysfunction of the central nervous system, such as dysregulation of frontal-subcortical-cerebellar catecholaminergic circuits and imbalances in the dopaminergic system. However, autonomic nervous system, comprised of two primary branches - sympathetic and parasympathetic nervous systems that are normally in dynamic balance, plays an essential role in the regulation of body functions. Although it is generally assumed that the autonomic regulation is impaired during ADHD the information related to this dysregulation is limited. One of the options to observe changes of autonomic balance in ADHD is pupillary light reflex (PLR). Pupillometric evaluation can be used for the assessment of functioning of both autonomic nervous system branches and certain parameters of pupil responsivity can be helpful as a tool for medical diagnostic and treatment. In conclusion, these findings suggest the pupillometry as a non-invasive method that can indicate abnormalities in the complex central autonomic network regulating PLR.
{"title":"Pupillary Light Reflex in Children with ADHD","authors":"A. Hamrakova, I. Ondrejka, N. Sekaninova, L. Peregrim, I. Tonhajzerova","doi":"10.2478/ACM-2019-0004","DOIUrl":"https://doi.org/10.2478/ACM-2019-0004","url":null,"abstract":"Abstract Attention deficit/hyperactivity disorder (ADHD) is one of the most frequently seen mental disorders in children with an increasing risk for other mental disorders. ADHD represents a primary biological dysfunction of the central nervous system, such as dysregulation of frontal-subcortical-cerebellar catecholaminergic circuits and imbalances in the dopaminergic system. However, autonomic nervous system, comprised of two primary branches - sympathetic and parasympathetic nervous systems that are normally in dynamic balance, plays an essential role in the regulation of body functions. Although it is generally assumed that the autonomic regulation is impaired during ADHD the information related to this dysregulation is limited. One of the options to observe changes of autonomic balance in ADHD is pupillary light reflex (PLR). Pupillometric evaluation can be used for the assessment of functioning of both autonomic nervous system branches and certain parameters of pupil responsivity can be helpful as a tool for medical diagnostic and treatment. In conclusion, these findings suggest the pupillometry as a non-invasive method that can indicate abnormalities in the complex central autonomic network regulating PLR.","PeriodicalId":30233,"journal":{"name":"Acta Medica Martiniana","volume":"19 1","pages":"30 - 37"},"PeriodicalIF":0.0,"publicationDate":"2019-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44466577","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}
L. Kováčiková, Ľ. Beňa, E. Lacková, Z. Žilinská, K. Graňák, P. Skálová, M. Vnučák, L. Laca, M. Mokáň, I. Dedinská
Abstract Background: Chronic kidney disease represents a world-wide health problem affecting approximately 195 million women around the world. Risk of development of chronic kidney disease is greater in women; therefore, the World Kidney Day 2018 was dedicated to kidney disease, treatment options, and its specifics in female patients. Materials and Methods: We retrospectively analysed a cohort of 1,457 patients after kidney transplantation from all transplant centres in Slovakia over a period of ten years from 2005 – 2015.The parameters taken into account were cause of end-stage renal disease (ESRD), outcome of transplantation in a context of differences between the genders. Results: During the ten-year period there were 557 transplanted women vs. 900 men. Among female recipient the dominant cause of ESRD was tubulointerstitial nephritis (males 22.3% vs. females 32.1%, p < 0.0001), other causes of ESRD where females were significantly more represented than men included polycystic kidney disease (males 11.6% vs. females 17.6%, p = 0.0013) and systemic lupus erythematosus (males 0.2% vs. females 2.3 %, p = 0.0001). There was no significant difference in 12-month, 5-year, and 10-year both graft and patient survival rates between men and women. Female recipients wait for kidney transplantation significantly longer in spite of comparable time spent on dialysis (males 32.9 months vs. females 39.4 months, p < 0.0001). Conclusion: Despite comparable patient and graft survival rates in male and female recipients in our study there are other studies showing that gender as well as gender mismatch significantly influence the outcomes of transplantation.
{"title":"Gender Differences in Kidney Transplantation – 10-Year Retrospective Study","authors":"L. Kováčiková, Ľ. Beňa, E. Lacková, Z. Žilinská, K. Graňák, P. Skálová, M. Vnučák, L. Laca, M. Mokáň, I. Dedinská","doi":"10.2478/acm-2018-0014","DOIUrl":"https://doi.org/10.2478/acm-2018-0014","url":null,"abstract":"Abstract Background: Chronic kidney disease represents a world-wide health problem affecting approximately 195 million women around the world. Risk of development of chronic kidney disease is greater in women; therefore, the World Kidney Day 2018 was dedicated to kidney disease, treatment options, and its specifics in female patients. Materials and Methods: We retrospectively analysed a cohort of 1,457 patients after kidney transplantation from all transplant centres in Slovakia over a period of ten years from 2005 – 2015.The parameters taken into account were cause of end-stage renal disease (ESRD), outcome of transplantation in a context of differences between the genders. Results: During the ten-year period there were 557 transplanted women vs. 900 men. Among female recipient the dominant cause of ESRD was tubulointerstitial nephritis (males 22.3% vs. females 32.1%, p < 0.0001), other causes of ESRD where females were significantly more represented than men included polycystic kidney disease (males 11.6% vs. females 17.6%, p = 0.0013) and systemic lupus erythematosus (males 0.2% vs. females 2.3 %, p = 0.0001). There was no significant difference in 12-month, 5-year, and 10-year both graft and patient survival rates between men and women. Female recipients wait for kidney transplantation significantly longer in spite of comparable time spent on dialysis (males 32.9 months vs. females 39.4 months, p < 0.0001). Conclusion: Despite comparable patient and graft survival rates in male and female recipients in our study there are other studies showing that gender as well as gender mismatch significantly influence the outcomes of transplantation.","PeriodicalId":30233,"journal":{"name":"Acta Medica Martiniana","volume":"18 1","pages":"24 - 29"},"PeriodicalIF":0.0,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41651559","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}
G. Sobolová, M. Drobný, L. Tulejova, S. Učňová, B. Sániová
Abstract The evaluation of electroencephalogram (EEG) and the clinical picture of eyelid myoclonus (EM) with absences (EMA) using classical EEG signal evaluation and power spectral analysis currently presents a major challenge to predict further improvement, unsteady status, neurological defect outcomes in patients, or lethal termination in septic encephalopathy and acid-base imbalance due to kidney failure. At the Clinic of Anaesthesiology and Intensive Medicine (CAIM) of University Hospital in Martin (UHM) we clinically examined a patient N.J., a 58-year-old male with EMA. We used the Neuron-Spectrum-AM specialized software to measure the EEG signal visually and by means of power spectral analysis methods to quantitatively analyse the EEG record. The power spectral colour maps confirmed a disturbance of consciousness, approximating the depth of unconsciousness, affirmatively with a clinical disorder in absences, hypoactive delirium, and showed extinction of functional brain foci with the possibility of topical interpretation, and established an EEG correlate of impaired cognition, attention and lucidity of consciousness that were assessed by the clinical findings of the attending physician. The EMA syndrome was a final agonal condition with hypoactive delirium and was considered to be idiopathic epilepsy linked to severe metabolic-septic encephalopathy as an epileptic syndrome.
{"title":"Jeavons Syndrome, Eyelid Myoclonus with Absences (EMA) with Epileptic Status and Hypoactive Delirium","authors":"G. Sobolová, M. Drobný, L. Tulejova, S. Učňová, B. Sániová","doi":"10.2478/acm-2018-0015","DOIUrl":"https://doi.org/10.2478/acm-2018-0015","url":null,"abstract":"Abstract The evaluation of electroencephalogram (EEG) and the clinical picture of eyelid myoclonus (EM) with absences (EMA) using classical EEG signal evaluation and power spectral analysis currently presents a major challenge to predict further improvement, unsteady status, neurological defect outcomes in patients, or lethal termination in septic encephalopathy and acid-base imbalance due to kidney failure. At the Clinic of Anaesthesiology and Intensive Medicine (CAIM) of University Hospital in Martin (UHM) we clinically examined a patient N.J., a 58-year-old male with EMA. We used the Neuron-Spectrum-AM specialized software to measure the EEG signal visually and by means of power spectral analysis methods to quantitatively analyse the EEG record. The power spectral colour maps confirmed a disturbance of consciousness, approximating the depth of unconsciousness, affirmatively with a clinical disorder in absences, hypoactive delirium, and showed extinction of functional brain foci with the possibility of topical interpretation, and established an EEG correlate of impaired cognition, attention and lucidity of consciousness that were assessed by the clinical findings of the attending physician. The EMA syndrome was a final agonal condition with hypoactive delirium and was considered to be idiopathic epilepsy linked to severe metabolic-septic encephalopathy as an epileptic syndrome.","PeriodicalId":30233,"journal":{"name":"Acta Medica Martiniana","volume":"18 1","pages":"30 - 41"},"PeriodicalIF":0.0,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41893568","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}
Abstract Hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is of dominant autosomal inheritance. Pathologic changes of vascular walls cause recurrent episodes of bleeding from many organ systems. Recurrent epistaxis is the first and the most frequent symptom of HHT. The causal therapy is not known but there are many therapeutic procedures improving the overall condition. We present a case of a 76-year-old man suffering from HHT, frequently hospitalized and treated for massive nose bleeding. In past a selective arterial embolization was performed thrice; nonetheless, the intensity and frequency of epistaxis remained unchanged. Anterior nasal package and electrocoagulation were performed repeatedly as the “first aid” treatment. In the article we also mention other therapeutic modalities for this diagnosis; unfortunately, their efficacy remains inadequate.
{"title":"Severe Recurrent Epistaxis - The Main Symptom of Hereditary Haemorrhagic Teleangiectasia","authors":"M. Lucanska, A. Hajtman, R. Péčová","doi":"10.2478/acm-2018-0016","DOIUrl":"https://doi.org/10.2478/acm-2018-0016","url":null,"abstract":"Abstract Hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is of dominant autosomal inheritance. Pathologic changes of vascular walls cause recurrent episodes of bleeding from many organ systems. Recurrent epistaxis is the first and the most frequent symptom of HHT. The causal therapy is not known but there are many therapeutic procedures improving the overall condition. We present a case of a 76-year-old man suffering from HHT, frequently hospitalized and treated for massive nose bleeding. In past a selective arterial embolization was performed thrice; nonetheless, the intensity and frequency of epistaxis remained unchanged. Anterior nasal package and electrocoagulation were performed repeatedly as the “first aid” treatment. In the article we also mention other therapeutic modalities for this diagnosis; unfortunately, their efficacy remains inadequate.","PeriodicalId":30233,"journal":{"name":"Acta Medica Martiniana","volume":" ","pages":"42 - 48"},"PeriodicalIF":0.0,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46949476","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}
Abstract Based on the high prevalence, diabetes mellitus (DM) is considered as a worldwide problem. More than 8.3 % of the world population is suffering from this disease. One of the causing factors of this disease can be the absence or imbalance of trace, essential elements. It can cause collapses of antioxidant defence and glucose intolerance. It plays a role in the pathogenesis and progression to diabetes mellitus. This review focuses on chromium, copper, selenium, vanadium, and zinc. Many studies deal with these elements but there is variability in opinions. Insulin-mimetic activity and ability to control the concentrations of blood glucose were confirmed. However, these effects were of more importance in patients with prediabetes. In patients with prediabetes, due to the supplementation of selected trace elements, it is possible to normalize the blood glucose level and prevent the development of diabetes mellitus. The importance of supplementation was confirmed for chromium and zinc. The supplementation of vanadium has a positive effect on the normalization of glycaemia but it is necessary to control the level as it can have toxic effects during long-term treatment. Conversely, higher copper concentrations in the body adversely affect patients and chelation therapy is needed. Selenium must be kept in the standard concentration and regular control of the concentration in the body is necessary. For this reason it is necessary to continue with analysis and the creation of new methodologies that could unify the view on the issue.
{"title":"Potential of Selected Trace Elements in Patients with Diabetes Mellitus","authors":"V. Ferencíková, O. Osina","doi":"10.2478/acm-2018-0013","DOIUrl":"https://doi.org/10.2478/acm-2018-0013","url":null,"abstract":"Abstract Based on the high prevalence, diabetes mellitus (DM) is considered as a worldwide problem. More than 8.3 % of the world population is suffering from this disease. One of the causing factors of this disease can be the absence or imbalance of trace, essential elements. It can cause collapses of antioxidant defence and glucose intolerance. It plays a role in the pathogenesis and progression to diabetes mellitus. This review focuses on chromium, copper, selenium, vanadium, and zinc. Many studies deal with these elements but there is variability in opinions. Insulin-mimetic activity and ability to control the concentrations of blood glucose were confirmed. However, these effects were of more importance in patients with prediabetes. In patients with prediabetes, due to the supplementation of selected trace elements, it is possible to normalize the blood glucose level and prevent the development of diabetes mellitus. The importance of supplementation was confirmed for chromium and zinc. The supplementation of vanadium has a positive effect on the normalization of glycaemia but it is necessary to control the level as it can have toxic effects during long-term treatment. Conversely, higher copper concentrations in the body adversely affect patients and chelation therapy is needed. Selenium must be kept in the standard concentration and regular control of the concentration in the body is necessary. For this reason it is necessary to continue with analysis and the creation of new methodologies that could unify the view on the issue.","PeriodicalId":30233,"journal":{"name":"Acta Medica Martiniana","volume":"18 1","pages":"17 - 23"},"PeriodicalIF":0.0,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44569741","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}
Abstract Chronic cough is a significant clinical problem in many patients. Current cough suppressant therapies are largely ineffective and have many dangerous adverse effects. Therefore, the identification of novel therapeutic targets and strategies for chronic cough treatment may lead to development of novel effective antitussive therapies with fewer adverse effects. The experimental research in the area of airway sensory nerves suggests that there are two main vagal afferent nerve subtypes that can directly activate cough – extrapulmonary airway C-fibres and Aδ-fibres (described as cough receptors) innervating the trachea. There are different receptors on the vagal nerve terminals that can trigger coughing, such as TRP channels and P2X2/3 receptors. However, in many patients with chronic respiratory diseases multiple activation of these receptors could be involved and it is also difficult to target these receptors. For that reason, a strategy that would inhibit cough-triggering nerve afferents regardless of activated receptors would be of great benefit. In recent years huge progress in understanding of voltage-gated sodium channels (NaVs) leads to a hypothesis that selective targeting of NaVs in airways may represent an effective treatment of pathological cough. The NaVs (NaV1.1 – NaV1.9) are essential for initiation and conduction of action potentials in these nerve fibres. Effective blocking of NaVs will prevent communication between airways and central nervous system and that would inhibit provoked cough irrespective to stimuli. This review provides an overview of airway afferent nerve subtypes that have been described in respiratory tract of human and in animal models. Moreover, the review highlights the current knowledge about cough, the sensory nerves involved in cough, and the voltage-gated sodium channels as a novel neural target in regulation of cough.
{"title":"Regulation of Cough by Voltage-Gated Sodium Channels in Airway Sensory Nerves","authors":"S. Svajdova, M. Brozmanová","doi":"10.2478/acm-2018-0012","DOIUrl":"https://doi.org/10.2478/acm-2018-0012","url":null,"abstract":"Abstract Chronic cough is a significant clinical problem in many patients. Current cough suppressant therapies are largely ineffective and have many dangerous adverse effects. Therefore, the identification of novel therapeutic targets and strategies for chronic cough treatment may lead to development of novel effective antitussive therapies with fewer adverse effects. The experimental research in the area of airway sensory nerves suggests that there are two main vagal afferent nerve subtypes that can directly activate cough – extrapulmonary airway C-fibres and Aδ-fibres (described as cough receptors) innervating the trachea. There are different receptors on the vagal nerve terminals that can trigger coughing, such as TRP channels and P2X2/3 receptors. However, in many patients with chronic respiratory diseases multiple activation of these receptors could be involved and it is also difficult to target these receptors. For that reason, a strategy that would inhibit cough-triggering nerve afferents regardless of activated receptors would be of great benefit. In recent years huge progress in understanding of voltage-gated sodium channels (NaVs) leads to a hypothesis that selective targeting of NaVs in airways may represent an effective treatment of pathological cough. The NaVs (NaV1.1 – NaV1.9) are essential for initiation and conduction of action potentials in these nerve fibres. Effective blocking of NaVs will prevent communication between airways and central nervous system and that would inhibit provoked cough irrespective to stimuli. This review provides an overview of airway afferent nerve subtypes that have been described in respiratory tract of human and in animal models. Moreover, the review highlights the current knowledge about cough, the sensory nerves involved in cough, and the voltage-gated sodium channels as a novel neural target in regulation of cough.","PeriodicalId":30233,"journal":{"name":"Acta Medica Martiniana","volume":"18 1","pages":"16 - 5"},"PeriodicalIF":0.0,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45366491","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}
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