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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
1

Prevalence kontaktní přecitlivělosti u dětí v České republice / The prevalence of contact sensitization in children in the Czech Republic

Machovcová, Alena January 2012 (has links)
Background The frequency of allergic contact dermatitis in children is not as negligible as had been originally thought. During the last decades, many reports have been published abroad concerning allergic contact dermatitis in children. However, the data about the Czech Republic were lacking. Aim of study The aim of the study was to determine the frequency of contact sensitization to the allergens of European baseline series in unselected child population. Material and Methods A group of 236 unselected schoolchildren aged between 6 and 16 years were patch tested with European baseline series in the years 2005 - 2006. Patch tests were evaluated in 218 (114 boys, 104 girls) according to the criteria of International Contact Dermatitis Research Group. Results One or more positive reactions had 67 children (30.7%). The top allergens in children were nickel sulfate, neomycin sulfate, potassium dichromate, cobalt chloride, Myroxylon pereirae resin (balsam of Peru) and fragrance mix I. Conclusion Results of patch tests in unselected set of Czech children are not very satisfactory. They indicate that the incidence of contact hypersensitivity in children is relatively frequent. It appears that the patch tests in the Czech Republic are not carried out on all children in whom they should be performed....
2

Klinicko-genetické aspekty familiárního výskytu karcinomu prsuFrekvence rekurentních mutací v genech BRCA1 a BRCA2 v České republice / Clinical and genetic aspects of familial breast cancerFrequency of recurrent mutations in BRCA1 and BRCA2 genes in Czech republic and the role of NBN gene

Matějů, Martin January 2014 (has links)
Summary: Background: An increased risk for development of hereditary breast cancer is associated with germline mutations in BRCA1/2 and the influence of NBN mutations is also supposed. The aim of this study is to specify the frequency of recurrent mutations in BRCA1/2 in unselected breast cancer patients and the frequency of most common pathogenic mutations in NBN in Czech republic, to assess current criteria for genetic testing and to consider the addition of NBN to the tested genes. Methods: Screening for recurrent mutations 5382insC and 300T>G in BRCA1 was performed by RFLP, screening for mutations in exon 11 of BRCA1 was performed by PTT, screening for mutations in a selected region of exon 11 of BRCA2 by DHPLC, and screening for mutations in exon 6 of NBN by HRMA. All the mutations were confirmed by direct sequencing. Results: In 679 unselected breast cancer patients 7 carriers of 5382insC, 3 of 300T>G, and 4 of other mutations in BRCA1 were identified. 2 locally prevalent mutations were found in BRCA2. In 730 controls only one 5382insC BRCA1 mutation was identified. Out of 5 NBN mutations found in 600 high-risk patients two were 657del5 and one R215W. A total of 8 NBN mutation carriers were identified among 703 breast cancer patients, 2 of them 657del5 carriers and three R215W carriers. In 915...
3

Klinicko-genetické aspekty familiárního výskytu karcinomu prsuFrekvence rekurentních mutací v genech BRCA1 a BRCA2 v České republice / Clinical and genetic aspects of familial breast cancerFrequency of recurrent mutations in BRCA1 and BRCA2 genes in Czech republic and the role of NBN gene

Matějů, Martin January 2014 (has links)
Summary: Background: An increased risk for development of hereditary breast cancer is associated with germline mutations in BRCA1/2 and the influence of NBN mutations is also supposed. The aim of this study is to specify the frequency of recurrent mutations in BRCA1/2 in unselected breast cancer patients and the frequency of most common pathogenic mutations in NBN in Czech republic, to assess current criteria for genetic testing and to consider the addition of NBN to the tested genes. Methods: Screening for recurrent mutations 5382insC and 300T>G in BRCA1 was performed by RFLP, screening for mutations in exon 11 of BRCA1 was performed by PTT, screening for mutations in a selected region of exon 11 of BRCA2 by DHPLC, and screening for mutations in exon 6 of NBN by HRMA. All the mutations were confirmed by direct sequencing. Results: In 679 unselected breast cancer patients 7 carriers of 5382insC, 3 of 300T>G, and 4 of other mutations in BRCA1 were identified. 2 locally prevalent mutations were found in BRCA2. In 730 controls only one 5382insC BRCA1 mutation was identified. Out of 5 NBN mutations found in 600 high-risk patients two were 657del5 and one R215W. A total of 8 NBN mutation carriers were identified among 703 breast cancer patients, 2 of them 657del5 carriers and three R215W carriers. In 915...
4

Prevalence kontaktní přecitlivělosti u dětí v České republice / The prevalence of contact sensitization in children in the Czech Republic

Machovcová, Alena January 2012 (has links)
Background The frequency of allergic contact dermatitis in children is not as negligible as had been originally thought. During the last decades, many reports have been published abroad concerning allergic contact dermatitis in children. However, the data about the Czech Republic were lacking. Aim of study The aim of the study was to determine the frequency of contact sensitization to the allergens of European baseline series in unselected child population. Material and Methods A group of 236 unselected schoolchildren aged between 6 and 16 years were patch tested with European baseline series in the years 2005 - 2006. Patch tests were evaluated in 218 (114 boys, 104 girls) according to the criteria of International Contact Dermatitis Research Group. Results One or more positive reactions had 67 children (30.7%). The top allergens in children were nickel sulfate, neomycin sulfate, potassium dichromate, cobalt chloride, Myroxylon pereirae resin (balsam of Peru) and fragrance mix I. Conclusion Results of patch tests in unselected set of Czech children are not very satisfactory. They indicate that the incidence of contact hypersensitivity in children is relatively frequent. It appears that the patch tests in the Czech Republic are not carried out on all children in whom they should be performed....
5

The potential relationships between hormone biomarkers and functional and health outcomes of ageing

Eendebak, Robert January 2017 (has links)
Although the female menopause has been extensively characterized as a well-defined symptomatic state of oestrogen deficiency, which responds relatively well to oestrogen replacement therapy, the symptomatic state of androgen deficiency in men is poorly defined and uncertainty exists whether it responds to testosterone replacement. It has been proposed that hypothalamic-pituitary-testicular (HPT)-axis function (responsible for the production of androgens) and regulation could be viewed as a ‘barometer’ of health status in older men and that potential alterations in HPT-axis function and regulation reflect subclinical and clinical deficits in function and health, which may result in an aged phenotype of human health and disease in older men. The HPT-axis constitutes a well-defined, tractable, clinically-relevant, biological system, which may permit insight into the mechanisms underlying the expression of ageing-related phenotypes of human health and disease. By using a different lens – such as the genetic background; the compensatory responses within the HPT-axis; the syndromes of androgen deficiency; the ethnic background of an individual or the life course trajectory of function and health from conception into older age – to magnify potential dysregulation in the HPT-axis will it be possible to visualize and understand the phenotypic expression of human male ageing as a gradient of functional and health outcomes. This will allow for a better understanding of the physiological mechanics underlying symptomatic expression of dysregulation in the HPT-axis.

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