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Clinical aspects of selected rare diseases in children.
Mazurová, Stella ; Honzík, Tomáš (advisor) ; Hrstková, Hana (referee) ; Votava, Felix (referee)
Introduction: Diagnosing inborn metabolic diseases, as a large subgroup of rare diseases, due to their rarity and wide variety of clinical manifestations, can be demanding and often prolonged. Objective: The aim of this work is, with the regard to clinical, biochemical and genetical aspects of selected rare diseases, to contribute to their rapid detection, widen the features of the natural course of the disease and contribute to their preventability. Material: This work includes cohort studies of patiens with cardiac manifestations in mitochondrial diseases, namely a group of 48 patients with TMEM70 protein deficiency, a group of 4 patients with Barth syndrome and individual cases of rare mitochondrial cardiomyopathies, thimidine kinase 2 deficiency and alanyl tRNA synthetase 2 deficiency. By determining the frequency, severity and type of heart disease, the phenotype was expanded, and the design of a therapeutic algorithm then made a positive impact on the prognosis of these patients. The work is also focused on the role of cardiac disease in the differential diagnosis of other genetically determined rare diseases, Marfan's syndrome and especially Pompe disease, where the emphasis is on early diagnosis, mainly due to the existence of an effective therapy. Focus on a broader differential diagnosis...
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Evaluation of neonatal laboratory screening efficacy in the Czech Republic and its improvements
David, Jan ; Votava, Felix (advisor) ; Černá, Marie (referee) ; Škvor, Jaroslav (referee)
INTRODUCTION: Newborn laboratory screening is a process used for early detection and treatment of selected rare diseases which leads to improvement in patient quality of life. All diseases included in newborn laboratory screening are classified as rare diseases, defined by a population frequency less than 1:2 000. The evaluation of newborn laboratory screening is an important tool for its improvements. The main aim of this doctoral thesis was to evaluate clinical and population-wide efficacy and balance detection rate and impact on healthy part of population. METHODS: The doctoral thesis was based on results from screening laboratories in period 2002-2017 in the Czech Republic. Dried blood spots from newborns were analyzed using fluorescence immuno-assay, tandem mass spectrometry and fluorimetry. RESULTS: The outcomes of this doctoral thesis led (1) to objectify prevalence of rare diseases in the Czech Republic, (2) to objectify association between prevalence of screened diseases and newborn birthweight, (3) to propose the change of decision limits of screening of 21-hydroxylase deficiency with aim to decrease high false positivity and negative impact on health part of population, (4) to define recommendations for managing of patients screened as positive in the 21-hydroxylase deficiency newborn...
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