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Molecular biological analysis of pheochromocytoma and paraganglioma.
Musil, Zdeněk ; Hirschfeldová, Kateřina (advisor) ; Zamrazilová, Hana (referee) ; Uhrová Mészárosová, Anna (referee)
This work summarizes the results of a research inquiring into relatively rare neuroendocrine tumors - pheochromocytomas and paragangliomas (PHEO/PGL) These tumors may arise on a hereditary genetic predisposition basis. On that account we primarily focused on a genetic examination of patients with PHEO/PGL. Methods for diagnostics of changes in SDHD, SDHB and RET genes were implemented. The number of examined genes has been (and is still being) extended. Currently we are investigating these genes: ATRX, BRAF, CDH1, CDKN2A, CDKN2B, FGFR1, FH, FHIT, GNAS, HIF2A (EPAS1), H-RAS, IDH1, IDH2, KIF1Bß, KMT2D, K-RAS, MAML3, MAX, MDH2, MET, NF1, NGFR, N-RAS, PHD2/EGLN1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TERT, TMEM 127, TP53 and VHL, using next generation sequencing. The number of variations of the above mentioned genes is different (23%) in Czech patients with PHEO/PGL in comparison with some foreign studies (27%, 40%). This may be caused by geographical influences or selection of patients. PHEO/PGL occur mainly (75%) in a benign form. A malignant form may be indicated by the presence of chromaffin tissue in locations where these tumors do not usually occur - liver, lungs, bones. In our study we focused on characteristics indicating the malignancy, for example, the lower age of patients with the first manifestation...
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Differences in the auxological characteristics of children with short stature - differential diagnostic possibilities of hypothyreosis
Daniš, Robert ; Zamrazilová, Hana (referee)
Child growth is a multifactorial process combining the influence of the polygenic form of inheritance and the influence of the environment in which the child grows up. The socio- economic level of the state and family is a determining factor in the rate of use of genetic growth potential. During the 20th century, the living conditions improved and the average population height increased, so-called secular changes. Negative trends in the lifestyle of today's society tend to grow rather restrictively. The sedentary lifestyle, along with the prevalence of overweight and obesity in current children, changes their growth profile, especially during puberty, and turns the secular trend of the height in the opposite direction. Growth is also a sensitive indicator of the health condition of a child. Serious diseases of the chronic and systemic character inhibit growth. Growth retardation also develops in some endocrinopathies, particularly in growth hormone deficiency and thyroid hormone deficiency. The auxological picture of these diseases is very similar. Differential marker is the only difference in the severity of delay ossification of carpal bones and long bones when assessing bone age from the X-ray of the hand and the distal forearm. The diagnostic logistic regression model, based on the definition...
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Weight proportionality and body composition in contemporary Czech preschool children
Janebová, Martina ; Sedlak, Petr (advisor) ; Zamrazilová, Hana (referee)
The diploma thesis is focused on the evaluation of actual state in somatic parametres, weight proportionality and body composition of contemporary Czech preschool children. The aim of this study is to prove validity of reference standards for selected somatic parametres, body mass index and body composition which were established in 1990 (and 1991 respectively). Due to the changes in socioeconomic status, dietary habits and level of physical activity between 1990 and 2017 we assume significant changes in the physical composition of current preschool children, namely a decrease in the proportion of the muscle component and an increase in the fat component for total body weight. It is also assumed that the body mass index (BMI) and % of adiposity will give different results for assesing overweight and obesity. The study involved a total of 468 children aged 4 to 6 years, 228 girls and 240 boys. In the pilot study between 2013 and 2014, 179 children, 90 girls and 89 boys were surveyed in 4 nursery schools in Prague, 1 in Kladno and 1 in Jihlava. In a follow-up study conducted between 2016 and 2017, a total of 289 children, 138 girls and 151 boys from 6 nursery schools in Prague were examined. Significant changes were demonstrated in almost all somatic parameters investigated, but the changes mostly...
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Lifestyle of adolescents
Horáková, Markéta ; Aldhoon Hainerová, Irena (advisor) ; Zamrazilová, Hana (referee)
A healthy lifestyle plays an important role in both keeping an optimal body weight as well as in the prevention of cardiovascular or metabolic diseases in adulthood. Therefore, it is highly important for children and adolescents to avoid negative aspects of their lifestyles and to be educated and supported in leading a healthy lifestyle in all it's forms. The theoretical part of this bachelor thesis defines the terms adolescent and obesity. It also lists all important aspects of a healthy lifestyle, including recommendations related to nutritions and physical activity. Risk factors that may be associated with increased body weight, such as genetic factors, inappropriate eating habits, a lack of exercise, an adverse family and social background, selected diseases and long-term medication, are further discussed. The most common obesity-related complications in children and adolescents are also presented. Additionally, percentile graphs of assessed anthropometric parameters for boys and girls are shown. Recommendations for a healthier lifestyle during adolescence are finally listed. The goal of the practical part of the bachelor thesis was to ascertain what kind of lifestyle adolescents lead. Anonymous questionnaire research was carried out on 198 students (93 girls and 105 boys) in a private high...
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Chemerin and omentin: relationship to body weight and cardiometabolic risk in Czech adolescents
Macháčková, Eva ; Zamrazilová, Hana (advisor) ; Pastucha, Libor (referee)
Epidemic of obesity is dangerous because of cardiometabolic health risks associated with it. The growing worldwide prevalence of obesity, even in pediatric population, goes hand in hand with efforts for finding new ways of treatment. Therapy with hormones of adipose tissue, adipokines, is one of the considered options. Chemerin and omentin are promising candidates for obesity treatment. Not many researches regarding adipokines and obese pediatric patients were published and the data from omentin researches are controversial. The aim of this diploma thesis is investigation of chemerin and omentin level differences between slim and obese Czech adolescents. Additionally, if hormone levels of adipokines correlate with observed anthropometric and biochemical parameters. Next, if chemerin and omentin levels differ with respect to diagnostic methods of metabolic syndrome. In addition, if these hormone levels change depending on weight reduction. Together 122 obese (BMI ≥ 97. percentile) and 162 slim (BMI 25.-75. percentile) girls and boys aged from 13,0 to 17,9 years were studied. Physical examination included basic clinical biochemical and anthropometric measurements. ELISA method for blood plasma examination was used for chemerin and omentin level investigation. Obese individuals underwent examination...
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Evolution of perception of physical proportions and the prevalence of obesity in different periods of human existence
Jungvirtová, Tereza ; Tomešová, Jitka (advisor) ; Zamrazilová, Hana (referee)
Perception of body proportion during human evolution has changed. At the beginning of human history was overweight seen as an advantage, especially in times of food shortages and was put on display. This time comes from the statue Venus of Willendorf. After the agricultural revolution began to change the perception of body porportion and began to be viewed positively for thinness. Perception of body proportions changes depends on the culture in which is evaluated. This is due to different cultural habits, determining which curves are considered attractive and which are not. Body perception is different among individuals with normal body weight, overweight or with obesity. Obese usually have a tendency to underestimate their body weight. We can observe differences in perception among childern, adolescents and adults. None of them is often satisfied with their body proportions. Children as well as adults underestimate their weight, while adolescents overestimate it. The biggest problem associated with the underestimation of body weight is obesity. Prevalence of obesity has rapidly increased over the last three decades in both developing and developed countries.
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Study of genetic and infectious risk factors in the pathogenesis of obesity in Czech adolescents.
Dušátková, Lenka ; Zamrazilová, Hana (advisor) ; Zapletalová, Jiřina (referee) ; Müllerová, Dana (referee)
4 Abstract The prevalence of obesity and its related cardiometabolic complications in children remains high across the world. Obesity is a multifactorial disease caused by interaction between genes and environmental factors. Genome-wide association studies have discovered several single nucleotide polymorphisms associated with obesity. A causal role of infection in the pathogenesis of obesity has also been considered, particularly the role of adenovirus 36 (Adv36). The aim of the Ph.D. thesis was to investigate the associations of obesity susceptibility loci (TMEM18, SH2B1, KCTD15, PCSK1, BDNF, SEC16B, MC4R, FTO) and Adv36 infection with obesity-related characteristics and complications in the Czech adolescent population. The results are described in eight publications, of which six are original papers and two are reviews. Studies were performed on a cohort of Czech adolescents recruited either from the general population (1,533 individuals from the epidemiological study) and from in-patient or outpatient weight management clinics (562 overweight/obese individuals underwent an intervention). The results demonstrated an association of TMEM18, SEC16B and FTO gene variants with obesity. Some variants of the genes involved in hypothalamic regulation of energy homeostasis − MC4R, BDNF, PCSK1 − were related to...
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Evolution of perception of body size and obesity prevalence in the current world population
Jungvirtová, Tereza ; Tomešová, Jitka (advisor) ; Zamrazilová, Hana (referee)
Perception of body proportions varies depending on the culture in which is examined. This is caused by cultural practices that have a diffrent views of what attractive curves are. In Western cultures prefer slim figure, which has often unhealthy impression. Eastern culture have slowly begun to adapt this trend. Africa differ in perception of body proportions. Larger curves are considered healthy and attractive there. Differences also occur in the perception of body weight among obese individuals who suffer from overweight and individuals who have healthy body weight. Obese individuals often understimate their weight. We can observe differences in perception of body proportions among children and adults and in among men and women. Women have more often have a tendency to overestimate their body weight, men usually have the opposite view. During the last three decades there has been a rapid increase in prevalence in developed and developing countries. Nowadays the prevalence of obesity is higher in developed countries but with the current rate of increase, the obesity prevalence in developing countries will be soon similar. The high incidence of health risk is associated with the high prevalence of obesity.
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