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Histamine intolerance
Draberová, Hana ; Humlová, Zuzana (advisor) ; Meisnerová, Eva (referee)
This bachelor's thesis deals with the topic of histamine intolerance (HIT). HIT is primarily caused by decreased activity of the enzyme diamine oxidase (DAO) which breaks down histamine. The accumulation of histamine in the human body can manifest itself with the wide range of symptoms. The most common symptoms include digestive problems, skin problems, and headaches. The symptoms of HIT are often similar to an allergic reaction, so making a correct diagnosis can be difficult. An elimination diet is recommended to relieve the symptoms. The basis of the elimination diet is to exclude food that increases the histamine level in the body. The thesis is divided into theoretical and practical parts. The theoretical part of the thesis summarizes the current knowledge about histamine intolerance and elimination diet. The practical part is focused on the mapping of the current situation in adult patients with diagnosed HIT. The research data were obtained from a questionnaire survey, which took place in the allergological clinic and on social networks. The research group consisted of one hundred and fifty-four respondents. The data showed that respondents who got HIT information from their physicians were more aware of HIT than those who gained knowledge from other patients with HIT. Most respondents who...
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Prader-Willi syndrome and Angelman syndrome
Draberová, Hana ; Šolc, Roman (advisor) ; Boháčková, Eva (referee)
The Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurobehavioural syndromes caused by loss of paternally or maternally expressed imprinted genes chromosom region 15q11-q13. Differential gene expression leads to differential phenotype. AS is caused by a lack of expression of gene UBE3A. The PWS is caused by changes in multiple genes, mainly in NDN, MAGEL2, SNURF-SNRPN a SNORD116. Both syndromes have unique morphological, physiological and behavioral manifestations. The most consistent features of PWS are neonatal hypotonia, hyperphagia, obesity and short stature. Typical features of AS are ataxia and epileptic seizure. Mental retardations are characteristic for both syndromes. Current knowledge of relationship between gene mutations and phenotypes in PWS and AS, their genetic background, diagnosis and treatment of these serious diseases are summarized in this Bachelor thesis.
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