National Repository of Grey Literature 2 records found  Search took 0.00 seconds. 
Utilization of LC-MS/MS in diagnosis of congenital adrenal hyperplasia
Grúlová, Kristýna ; Kozlík, Petr (advisor) ; Jelínek, Ivan (referee)
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease that causes a disorder of steroidogenesis in the adrenal cortex. This disease is a part of a panel of diseases searched in preclinical nationwide neonatal screening. The methodology is based on measuring the concentration of 17-hydroxyprogesterone (17-OHP) in a dried blood spot using fluorescence immunoassay (FIA). However, this determination is not entirely specific and generates a high rate of false positive results (up to 4.3 %). In this diploma thesis the LC-MS / MS method was developed. This method measures selected steroid hormones involved in cortisol metabolism with respect to the diagnosis of CAH disease. The method was validated and applied to clinical samples, it identified CAH patients from negative controls and significantly reduced the false positivity of neonatal screening results. Compared to the FIA results, the LC-MS / MS method reduced false positivity up to 50 % by evaluating the concentration of 17-OHP. Moreover, by extending the diagnostic algorithm with other measured markers, the reduction was enhanced up to 98%. The developed method is also applicable for the measurement of serum and plasma samples, respectively, and has become a part of the confirmation tests for suspected CAH screening findings. Key...
Study of cyclization of tetrazolopyrimidines for synthesis of tricyclic nucleobases
Grúlová, Kristýna ; Hocek, Michal (advisor) ; Smrček, Stanislav (referee)
This bachelor thesis describes a study of cyclization reaction of substituted tetrazolopyrimidines, which were obtained by a three-step synthesis starting from 4,6-dichloropyrimidine, which was first zincated and then submitted to Negishi coupling with corresponding heteroaryl iodide followed by nucleophilic substitution with sodium azide. The previously known unexpected fluorescent product produced by the cyclization of the 2-thiophenyl derivative was resynthesized. An analogous product was obtained by cyclization of the 3-thiophenyl derivative. In contrast, the cyclization of the phenyl, 1-naphthyl and 2-furyl derivatives gave the expected tricyclic product resulting from the cyclization of the azide. Key words: heterocycles, cyclizations, nucleobases

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