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Vitamíny v prevencii vývojových vád plodu – výživa tehotných
Brenkusová, Lada
The diploma thesis deals with the issue of pregnancy nutrition especially in terms of the representation of vitamins that have proven beneficial effect on pregnancy and fetal development. The theoretical part provides information about vitamins and their recommended daily allowances and also there is a list of food examples from which these vitamins can be taken. Part of the thesis is devoted to the chromatographic method which can be used in the analysis of vitamins in samples. The experimental part describes the procedure of extraction and determination of vitamins in purchased vitamin supplements using high pressure liquid chromatography (HPLC). The final part of the thesis contains measured and recalculated values of individual vitamins, which were compared with the declared values stated on the product packaging.
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Molecular basic of disorders of sexual development in human
Kopanicová, Eliška ; Šípek, Antonín (advisor) ; Liška, František (referee)
The development of human internal and external reprodictive organs is regulated on chromosomal, gene and hormonal levels. Different types of mutations on chromosomal and gene level interrupt those pathways, which affect the further development of reproductive organs. Pathways are disrupted and couse variable developmental defects of both internal and external genital organs. The main goal of this work is to summarize these molecular processes that further affect the development of genitals in humans, possible developmental errors and their phenotypic subsequnet manifestations. Keywords: Reproductive organs, congenital anomalies, genetic disorders
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Molecular basis of human congenital anomalies
Kovačičová, Denisa ; Šípek, Antonín (advisor) ; Rothová, Olga (referee)
This bachelor thesis deals with the topic of congenital anomalies. The sorting of the congenital anomalies is discussed in the first two chapters. The third chapter concerns the mutations of the short arm of chromosome 17. I have chosen to describe the Smith - Magenis syndrome, which is caused by the deletion of 17p11.2, and the Potocki - Lupski syndrome, which is its reciprocal duplication. The gene RAI1 is specified in this part. The other topic mentioned in this thesis are RASopathies. The research of this section deals with the Noonan syndrome and focuses on mutations in genes PTPN11, SOS1, RAF1, KRAS and NRAS. In the fifth chapter the issue of thalidomide, its history and the mechanisms of action discovered up to now are described. The critical period and the mechanisms of limb reduction defects related to the timing of exposure are also defined here. New methods and findings related to these topics are discussed in the end of this work. Key words: congenital anomalies, teratology, ontogenesis, Potocki - Lupski syndrome, Smith - Magenis syndrome, RASopathies, Noonan syndrome, thalidomide
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Developmental defects of reproductive system in selected species of mammals
Vedralová, Petra ; Chmelíková, Eva (advisor) ; Krejčířová, Romana (referee)
Genital organs of males and females provide the reproduction and survival of the species. If the gonads or efferent tract are formed abnormally or missing, reproductive anomalies arise. Then development of female or male gametes are not normal and fertilization and pregnancy or sexual act can not be performed. It is in all livestock but also in all mammals.
Developmental disorders of reproductive system are usually inherited and they are passed from parents to offspring. Defects may occur at the chromosomal, gonadal or phenotypic level.
Monosomy and trisomy are serious disorders of chromosomal sex and they cause infertility of affected individual. Sex reversal is included among the defects of gonadal sex. Anomalies of phenotypic sex are hermaphroditism and pseudohermaphroditism. Hypoplasia of the ovaries and testes and frequent cryptorchidism belong to defects of the gonads. The most common anomalies of the efferent genital tract are aplasia of Müllerian and Wolffian ducts, hypospadia and diphallia.
Developmental defects are grave. Because of them the reproduction is not successful or even impossible. Animals in testing or breeding with disorders are excluded from breeding programme to defects not get among descendants.
The occurrence of genital tract defects causes reproductive disorders and infertility. It is linked closely with the economy mainly in livestock. So the breeding is lossy. Breeding is healthier and more successful if methods for describing are improved and selection is realized.
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