National Repository of Grey Literature 4 records found  Search took 0.01 seconds. 
Neurological manifestations of Fabry disease
Reková, Petra ; Kemlink, David (advisor) ; Karetová, Debora (referee) ; Kešnerová, Petra (referee)
Neurological manifestations of Fabry disease Abstract The presented thesis deals with cerebrovascular manifestations of a rare X-linked disease, Fabry disease (FD). Screening programs can detect unrecognized disease and increase awareness of the disease with the goal of early diagnosis and initiation of therapy before developing an irreversible organ damage. Identifying vascular abnormalities and the influence of comorbidities on the cerebrovascular phenotype of FD patients may help to promote the knowledge of the pathophysiology of cerebrovascular involvement. The main objectives of the studies underlying this thesis were to determine the prevalence of FD and to evaluate the relevance of FD diagnosis in an at-risk group of patients with acute ischemic stroke, to analyse the cerebrovascular phenotype of patients with FD using ultrasound, and to identify predictors of significant cerebrovascular involvement. In this thesis we showed a relatively high prevalence of FD in adult patients with acute stroke, proposed to reclassify the G325S variant, and identified a novel R30K variant. We noted that the combination of aseptic meningitis with lacunar stroke in a young person should lead to suspicion of FD. We further demonstrated multiple differences in neurosonological parameters between patients with FD and a...
Unstable atherosclerotic carotid plaque diagnosis and influence on cerebral hemodynamics
Kešnerová, Petra ; Školoudík, David (advisor) ; Škoda, Ondřej (referee) ; Aulický, Petr (referee)
Unstable atherosclerotic carotid plaque diagnosis and influence on cerebral hemodynamics ABSTRACT Atherosclerosis of carotid arteries belongs to most important risk factors of stroke especially if unstable plaques are detected. However, the formation of the plaques and their transformation to unstable stage are not fully clarified. The aim of this work was to map the actual diagnostic possibilities, innovations in this field and to explore the impacts on cerebrovascular hemodynamics. In partial studies we succeeded to identify the ultrasound characteristics of the atherosclerotic carotid plaque which increases the risk of its progression. Those are the width of plaque, surface irregularities and ulcerations. The differences in elasticity between stable and unstable plaque were found using the novel method of shear-wave elastography with significantly higher average elasticity in plaques asymptomatic stable then in plaques asymptomatic progressive or plaques symptomatic. To extend research opportunities to in vitro studies the hemodynamic model of carotid bifurcation was constructed with the insertion of the plaque extracted during carotid endarterectomy and its function for the studies of hemodynamic changes in carotid stenoses was confirmed. The increase in resistance and pulsatility of cerebral arteries...

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