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Possibilities of genetic testing in patients with pheochromocytoma and paraganglioma.
Turková, Hana ; Zelinka, Tomáš (advisor) ; Malík, Jan (referee) ; Fryšák, Zdeněk (referee)
1. Abstract Pheochromocytoma/ paraganglioma (FEO/PGL) may be developed on the basis of an inherited genetic mutation of different genes. They are associated with a high risk of developing of secondary hypertension, organ damage and metastatic disease that can be fatal. The aim was to focus on the possibility of genetic testing in patients with FEO/PGL, especially in patients with malignant tumors. The issue FEO/PGL, however, concerns not only the examination and assessment of risks arising therefrom, as well as other therapies and monitoring, including appropriate recommendations for clinical practice. We demonstrated a 20% incidence of cardiovascular (CV) complications before determining the final diagnosis of FEO/PGL, mainly arrhythmic, followed by complications of myocardial ischemia and accentuate atherosclerosis. Elevated levels of vitamin C and decreased levels of malondialdehyde (MDA) following the successful removal of the tumor demonstrated reduction of oxidative stress postoperatively. We found that early postoperative testing of levels of plasma metanephrines to confirm the success of surgical removal of FEO/PGL is already possible, since there was no significant correlation between plasma levels of metanephrines and postoperative examination interval. Distribution of frequency of metastatic...
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Prenatal limb development and its pathology
Skoupá, Veronika ; Hovořáková, Mária (advisor) ; Zahradníček, Oldřich (referee)
Limb defects are the second most common congenital disease in children. They occur in the prenatal period and are most often caused by genetic defects or chromosomal abnormalities. Limb defects can also be caused by the action of various teratogens, which can disrupt the development of the fetus. The prenatal development of a child is an extremely complicated sequence of a large number of interconnected events, which, despite considerable advances and discoveries in the field of molecular biology over the last few decades, we still do not fully understand. The present thesis tries to summarize the problem of limb defects from their origin, through possible causes to several diseases that are associated with limb anomalies. Improvement of our knowledge in the field of limb development and defects associated with it is important for accurate prenatal diagnosis and subsequent successful treatment of patients.
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Possibilities of genetic testing in patients with pheochromocytoma and paraganglioma.
Turková, Hana ; Zelinka, Tomáš (advisor) ; Malík, Jan (referee) ; Fryšák, Zdeněk (referee)
1. Abstract Pheochromocytoma/ paraganglioma (FEO/PGL) may be developed on the basis of an inherited genetic mutation of different genes. They are associated with a high risk of developing of secondary hypertension, organ damage and metastatic disease that can be fatal. The aim was to focus on the possibility of genetic testing in patients with FEO/PGL, especially in patients with malignant tumors. The issue FEO/PGL, however, concerns not only the examination and assessment of risks arising therefrom, as well as other therapies and monitoring, including appropriate recommendations for clinical practice. We demonstrated a 20% incidence of cardiovascular (CV) complications before determining the final diagnosis of FEO/PGL, mainly arrhythmic, followed by complications of myocardial ischemia and accentuate atherosclerosis. Elevated levels of vitamin C and decreased levels of malondialdehyde (MDA) following the successful removal of the tumor demonstrated reduction of oxidative stress postoperatively. We found that early postoperative testing of levels of plasma metanephrines to confirm the success of surgical removal of FEO/PGL is already possible, since there was no significant correlation between plasma levels of metanephrines and postoperative examination interval. Distribution of frequency of metastatic...
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