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Prevalence and severity of sexual dysfunctions in patients with selected rheumatic diseases and the effect of specialized physiotherapeutic intervention on the sexual health of these patients
Heřmánková, Barbora ; Tomčík, Michal (advisor) ; Horák, Pavel (referee) ; Suchý, David (referee)
Introduction: Rare rheumatic diseases, such as systemic sclerosis (SSc) and idiopathic inflammatory myopathies (IIM), are severe autoimmune diseases characterized by multiorgan involvement and often significant functional impairment that are chronic and progressive in nature. Severe clinical manifestations of SSc and IIM are often associated with significant deterioration of all aspects of quality of life, including sexual function. Only a low number of studies have addressed sexual health in patients with SSc and IIM, which are limited by small sample size, the use of non-standardized scales, or poor methodological quality. In addition, none of the studies evaluated pelvic floor function and its relationship to sexual function in patients with these diseases. Objectives: The aim of this work was a cross-sectional evaluation of the prevalence and severity of sexual dysfunction and pelvic floor dysfunction in women and men with SSc and IIM compared to sex-/age-matched healthy controls (HC). Furthermore, we aimed to evaluate the association between sexual dysfunction/pelvic floor dysfunction and disease-related features. Finally, our goal within the pilot project was to evaluate the effect of an 8-week physiotherapy program on sexual function in women with SSc and IIM. Methods: This work consists of...
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Immunogenetic and hormonal markers of predisposition to systemic rheumatic diseases particularly systemic lupus erythematosus
Fojtíková, Markéta ; Pavelka, Karel (advisor) ; Hrnčíř, Zbyněk (referee) ; Rovenský, Jozef (referee)
Fojtikova 2011 INTRODUCTION: Several factors like genetic susceptibility is required for systemic rheumatic diseases development. Immunomodulatory PRL effect supports autoimmunity. AIMS: 1. To detect the immunogenetic background (alleles HLA class I, II and microsatellite polymorphism of the transmembrane part exon 5 of MIC-A gene) of SLE and PsA. 2. To detect PRL serum and synovial fluid with regard to clinical and laboratory RA activity. 3. To find the role of the functional polymorphism -1149G/T SNP PRL of extrapituitary promoter of PRL gene in SLE, RA, PsA, SSc and inflammatory myopathies development. METHODS: Genetic analyses of pateints with SLE (n=156), RA (n=173), PsA (n=100), SSc (n=75), PM (n=47) a DM (n=68) and 123 healthy individuals: PCR-SSP (HLA clase I and II), PCR-fragment analysis (MIC-A) a PCR-RFLP (-1149 G/T SNP PRL). In 29 RA a 26 OA PRL serum and synovial fluid concentrations were detected using immunoradiometric assay. RESULTS: 1. The allele HLA-DRB1*03 (pc=0.008; OR 2.5) and haplotype HLA-DRB1*03-DQB1*0201 (pc <0.001; OR 4.54) were determined as risk immunogenetic markers for SLE in Czech population. In SLE versus controls allele MIC-A5.1 was increased (pc =0.005; OR 1.88). MIC-A5.1 together with HLA-DRB1*03 increases the risk for SLE development, pc <0.000001; OR 9.71....
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The effect of aerobic training in patients with systemic sclerosis - literature review
Játiová, Lenka ; Špiritović, Maja (advisor) ; Heřmánková, Barbora (referee)
Title: The effect of aerobic training in patients with systemic sclerosis - literature review Objective: Main aim of this diploma thesis is to evaluate the effect of aerobic training in individuals with systemic sclerosis, to assess whether aerobic training has an impact on quality of life of these patients, and find out which methods are used to assess aerobic fitness in these individuals. Furthermore, the work is focused on summarizing the existing knowledge about the disease itself. Methodics: Thesis is written in the form of a systematic review according to the specified methodological parameters. Results: Studies have shown that aerobic training or aerobic training in combination with resistant training has a positive effect on the aerobic capacity of individuals with systemic scleroderma, the trend to improve quality of life was found in all studies and the methods used to determine aerobic fitness in all studies were cardiopulmonary stress tests. In the case of three studies, a six-minute walk test was also evaluated, the results of which were determined in two studies as the primary values for determining the effectiveness of training. Keywords: systemic sclerosis, scleroderma, physical exercise, aerobic exercise, aerobic training
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The effect of physical activity interventions on the course and activity of selected rheumatic diseases
Špiritović, Maja ; Tomčík, Michal (advisor) ; Horák, Pavel (referee) ; Soukup, Tomáš (referee)
Introduction: This work focused on two rare rheumatic diseases systemic sclerosis (SSc) and idiopathic inflammatory myopathies (IIM). Skin and musculoskeletal involvement in patients with SSc leads to disability and loss of functional abilities of an individual. Chronic inflammation of the muscles, subsequent muscle atrophy and permanent muscle damage in patients with IIM are the cause of a decrease in muscle strength and endurance. Moreover, both diseases also affect internal organs and manifest often with impaired lung and heart function. All of these involvements in both diseases lead to a decrease in the quality of life of patients. The data on efficacy of non-pharmacological care in SSc and IIM are very limited due to the heterogeneity of the studied interventions and/or outcomes. However, due to limitations in pharmacological therapy, non-pharmacological interventions could help bring patients back into their everyday life and improve their quality of life. Objectives: The main objective of this project was to evaluate the impact of physical intervention on disease course and activity in a substantial number of SSc and IIM patients, with the aim of minimizing the limitations of available studies, thereby improving the quality and reliability of the obtained results. Methods: This is a...
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Sexual dysfunction and pelvic floor dysfunction in patients with systemic rheumatic diseases
Heřmánková, Barbora ; Špiritović, Maja (advisor) ; Nováková, Tereza (referee)
Title: Sexual Dysfunction and Pelvic Floor Dysfunction in Patients with Systemic Rheumatic Diseases Objectives: To assess sexual functions, quality of life and pelvic floor function in female patients with Systemic Sclerosis (SSc) and Idiopathic Inflammatory Myopathies (IIM) compared to age-/sex-matched healthy controls (HC). Methods: In total, 41 women with SSc (mean age: 50.9, disease duration: 5.8 years), who fulfilled the ACR/EULAR 2013 classification criteria for SSc, 41 healthy controls (mean age: 50.9) without rheumatic diseases, 22 women with IIM [mean age: 55.1, disease duration: 7.9 years, dermatomyositis (DM, 8)/ polymyositis (PM, 10)/ necrotizing myopathy (IMNM, 3)/ inclusion body myositis (IBM, 1)], who fulfilled the Bohan/Peter 1975 diagnostic criteria for DM/PM, and 22 healthy controls (mean age: 55.1 years) filled in 12 well-established and validated questionnaires assessing sexual function/quality of life, pelvic floor function, fatigue, physical activity and depression. Results: Compared to HC, patients with SSc and IIM had significantly higher prevalence and greater severity of sexual dysfunction (FSFI, BISF-W: in all subscales as well as total scores), dysfunction of pelvic floor (PISQ-12), and worse sexual quality of life (SQoL-F). Worse scores in SSc patients were associated...
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The role of new profibrotic molecules in the pathogenesis of systemic sclerosis.
Šumová, Barbora ; Šenolt, Ladislav (advisor) ; Funda, David (referee) ; Soukup, Tomáš (referee)
Systemic sclerosis (SSc) is immune-mediated fibrotic disease of unknown aetiology. Among the dominant pathogenic manifestations of SSc belong vascular changes, production of autoantibodies, activation of innate and adaptive immune responses and fibrotic processes. Transforming growth factor beta (TGF-β) has been identified as a central profibrotic factor stimulating fibroblasts to produce collagen. There are, however, a number of other mediators involved in the pathogenesis of SSc. Mutual activation and amplification of these molecules and their cascades may be a central mechanism of the SSc pathogenesis. Hedgehog (Hh) canonical signalling pathway plays an important role in the development and progression of fibrotic diseases. Expression of Hh target genes can be regulated through a canonical or non-canonical signalling cascade. The non-canonical activation of GLI transcription factors by TGF-β has not yet been investigated in SSc. The substantial part of this thesis is focused on the study of the mutual interaction of TGF-β and Hh signalling pathway. In vitro analysis confirmed TGF- β/SMAD3 dependent activation of GLI2 in dermal fibroblasts. Fibroblasts specific knockout of GLI2 prevented the development of experimental fibrosis in vivo. Combined targeting of canonical and non-canonical Hh...
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New biomarkers and candidate molecules in antifibrotic therapy in systemic scleroderma
Štorkánová, Hana ; Tomčík, Michal (advisor) ; Javorková, Eliška (referee)
Systemic scleroderma (SSc) is a systemic connective tissue disease affecting skin and internal organs. The pathogenesis of SSc is characterized by inflammation, vasculopathy and fibrosis. No agent has been proven effective in the treatment of SSc. There is a lack of suitable biomarkers for monitoring the disease activity or the response to the treatment of SSc. Therefore our aim was to analyse the extracellular levels of S100A4, Hsp90 (Heat shock protein 90) and IL-35 (interleukin-35) in SSc. S100A4 and Hsp90 have been initially studied in tumours; in some of them considered as suitable prognostic markers and candidates for future therapies. We have recently described the profibrotic role of S100A4 and Hsp90 in the pathogenesis of SSc. Our results showed that inactivation of S100A4 and Hsp90 effectively prevented the development of experimental skin fibrosis. This was consequently confirmed by the analysis of S100A4 and Hsp90 in the peripheral blood of patients with SSc, where significant associations with disease activity and organ involvement were detected. IL-35 may become another potential biomarker of SSc. We detected increased expression of IL-35 in the affected skin, dermal fibroblasts and in serum of patients with SSc. Moreover, the main profibrotic mediator transforming growth factor...
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Immunogenetic and hormonal markers of predisposition to systemic rheumatic diseases particularly systemic lupus erythematosus
Fojtíková, Markéta ; Pavelka, Karel (advisor) ; Hrnčíř, Zbyněk (referee) ; Rovenský, Jozef (referee)
Fojtikova 2011 INTRODUCTION: Several factors like genetic susceptibility is required for systemic rheumatic diseases development. Immunomodulatory PRL effect supports autoimmunity. AIMS: 1. To detect the immunogenetic background (alleles HLA class I, II and microsatellite polymorphism of the transmembrane part exon 5 of MIC-A gene) of SLE and PsA. 2. To detect PRL serum and synovial fluid with regard to clinical and laboratory RA activity. 3. To find the role of the functional polymorphism -1149G/T SNP PRL of extrapituitary promoter of PRL gene in SLE, RA, PsA, SSc and inflammatory myopathies development. METHODS: Genetic analyses of pateints with SLE (n=156), RA (n=173), PsA (n=100), SSc (n=75), PM (n=47) a DM (n=68) and 123 healthy individuals: PCR-SSP (HLA clase I and II), PCR-fragment analysis (MIC-A) a PCR-RFLP (-1149 G/T SNP PRL). In 29 RA a 26 OA PRL serum and synovial fluid concentrations were detected using immunoradiometric assay. RESULTS: 1. The allele HLA-DRB1*03 (pc=0.008; OR 2.5) and haplotype HLA-DRB1*03-DQB1*0201 (pc <0.001; OR 4.54) were determined as risk immunogenetic markers for SLE in Czech population. In SLE versus controls allele MIC-A5.1 was increased (pc =0.005; OR 1.88). MIC-A5.1 together with HLA-DRB1*03 increases the risk for SLE development, pc <0.000001; OR 9.71....
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