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Role of Nkx2.5 on development and electrophysiology of the mouse heart
Hámor, Peter ; Sedmera, David (advisor) ; Neckář, Jan (referee)
Role of Nkx2.5 on development and electrophysiology of the mouse heart Prague 2015 Bc. Peter Hámor ABSTRACT The objective of this thesis is to investigate the role of Nkx2.5 gene dosage on electrophysiology of the mouse heart in prenatal stage of its development, in which the physiological functions of the heart fail to function properly. The main goal of this work is to search for differences in conduction of electric impulses through the embryonic mouse heart according to their genotype. Special method of capturing the conduction of electric impulse through myocardium was used for this purpose, called optical mapping. Thanks to this method I was able to construct images and videos capturing transition of the impulse with marked beginning of the activation and its direction in the heart. These outputs, or optical maps, help to define anomalies and defects compared with a normal functioning heart. The thesis focuses on the expression of the transcription factor Nkx2.5 and regulatory components related with the correct formation and physiology of the heart until 9.5 days post coitum. Individuals in this developmental stage were optically mapped and compared according to their genotypes - homozygous non-mutant, heterozygote and homozygous mutant mouse embryos exhibited some degree of similarity, while other...
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Prenatal diagnosis by imaging methods
VLČEK, Martin
The bachelor degree thesis focuses on imaging methods in prenatal diagnostics. The theoretical part informs the readers about the current situation in this field, including invasive and noninvasive examination methods. The theoretical part is concluded with a chapter on prenatal detection of heart disease by means of screening examination of pregnant women. The objective of the thesis was to highlight the activities of a radiological assistant, to describe his/her activities during the use of various modalities and possibilities in diagnostics of congenital heart diseases, both prenatally and perinatally. One hypothesis was formulated, concerning the activity of a radiological assistant in diagnostics of congenital heart diseases during the prenatal period. The quantitative research was designed based on the number of examined fetuses and newborns in the teaching hospital (Fakultní nemocnice) in Motol and in the Center of Medical Genetics (Centrum lékařské genetiky s.r.o.) in České Budějovice in the course of 1 year. In 59 fetuses examined with magnetic resonance the following 3 congenital heart diseases were detected most frequently: 7 cases of agenesis of corpus callosum, 6 cases of ventriculomegalia and 7 cases of congenital cystic adenomatoid lung malformation. None of the examined mothers was diagnosed with placenta defects or pathological changes on the fetus heart. The formulated hypothesis has been confirmed. At present, congenital heart diseases are not routinely prenatally examined by means of magnetic resonance due to the too robust technology and insufficient quality of the imaging. The prominent role is still being played by ultrasonic examinations performed by gynecologists and obstetricians. The thesis and the research results may be used by cardiologists, gynecologists, obstetricians, as well as radiologists.
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