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Pathophysiological mechanisms and optimization of diagnosing congenital adrenal hyperplasia
Malíková, Jana ; Lebl, Jan (advisor) ; Vrbíková, Jana (referee) ; Zapletalová, Jiřina (referee)
Autoreferát 5 Summary Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases which are characterized by inadequate secretion of steroid hormones of the adrenal cortex. The most common type of CAH is a deficiency of 21-hydroxylase (CYP21A2 gene), which leads to insufficient secretion of mineralocorticoids and glucocorticoids and excessive androgen production. There is apparent good correlation between the type of mutation and a 21-hydroxylase deficiency, and subsequently the clinical presentation. Neonatal screening for CAH was introduced to early and effectively recognize the most severe type of 21-hydroxylase deficiency (salt wasting form of CAH). Neonatal screening CAH is based on the detection 17-OHP level in dried blood spots by fluoroimmunoassay (Delfia). In the Czech Republic NS CAH was implemented to screening program in 2006. During the period of 2006 - 2011 we evaluated the results of NS CAH and we observed sensitivity of 98%, specificity of 99.5%, a low positive predictive value (PPV) of 1.6% and a high false positive rate (FPR) of 0.51% in the whole group examined newborns. Due to the low positive predictive value in the part of neonatal population (0.51%) the levels of 17-OHP are repeatedly checked for transiently elevated levels of 17-OHP above the cut-off limit of...
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Pathophysiological mechanisms and optimization of diagnosing congenital adrenal hyperplasia
Malíková, Jana ; Lebl, Jan (advisor) ; Vrbíková, Jana (referee) ; Zapletalová, Jiřina (referee)
Autoreferát 5 Summary Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases which are characterized by inadequate secretion of steroid hormones of the adrenal cortex. The most common type of CAH is a deficiency of 21-hydroxylase (CYP21A2 gene), which leads to insufficient secretion of mineralocorticoids and glucocorticoids and excessive androgen production. There is apparent good correlation between the type of mutation and a 21-hydroxylase deficiency, and subsequently the clinical presentation. Neonatal screening for CAH was introduced to early and effectively recognize the most severe type of 21-hydroxylase deficiency (salt wasting form of CAH). Neonatal screening CAH is based on the detection 17-OHP level in dried blood spots by fluoroimmunoassay (Delfia). In the Czech Republic NS CAH was implemented to screening program in 2006. During the period of 2006 - 2011 we evaluated the results of NS CAH and we observed sensitivity of 98%, specificity of 99.5%, a low positive predictive value (PPV) of 1.6% and a high false positive rate (FPR) of 0.51% in the whole group examined newborns. Due to the low positive predictive value in the part of neonatal population (0.51%) the levels of 17-OHP are repeatedly checked for transiently elevated levels of 17-OHP above the cut-off limit of...
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Presentation of minorities in the textbooks of English language
MALÍKOVÁ, Jana
Annotation In my diploma thesis I deal with the presentation of women as a minority in English language textbooks. The theoretical part explains why it is a keep necessary to consider woman to be a minority in society. The theoretical part is divided in two parts. The first part examines gender as a general concept, focusing on substantiality and circumstances, that are important to the formation of gender identity. The second part explores gender is in the context of education and textbooks. The practical part concentrates on the research of gender representation in three kinds of the textbooks that are presently used for teaching English language. The aspects being researched are: the whole conception of the curriculum, and the portraying of man and woman through pictures, dialogues, language, occupational stereotyping and family.
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