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Genetic and Hormonal Regulation of Children's Growth
Vosáhlo, Jan ; Lebl, Jan (advisor) ; Marek, Josef (referee) ; Vaňková, Markéta (referee)
Genetic and Hormonal Regulation of Children's Growth MUDr. Jan Vosáhlo Abstract Growth in childhood is a complex process of changing the body, which can be disrupted by various illnesses including endocrine disorders, particularly growth hormone deficiency. Tumors or other processes affecting hypothalamic-pituitary area can be a postnatal cause of GHD; prenatal causes include 1) developmental disorders of the pituitary as part of complex syndromes, 2) developmental disorders of the pituitary due to defects in regulatory genes and 3) defects in genes involved in the synthesis and secretion of GH. The first topic of the thesis was septo-optic dysplasia - a complex syndrome involving optic nerve hypoplasia, structural brain abnormalities and pituitary dysfunctions. We extensively described phenotype in 11 Czech patients; we observed both complete SOD and incomplete forms variously combining two of the three main components of the syndrome. The cohort then became a part of an international study of 68 patients, in which we studied the phenotype in dependence on the brain morphology. We found correlation between the severity of clinical symptoms and the degree of septum pellucidum abnormities and also a correlation between hippocampus and falx abnormities and neurological symptoms. As the second topic we studied...
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Contribution to radiodiagnostics and to treatment of chosen pathological lesions of femur in childhood and in adults
Horák, Martin ; Poučková, Pavla (advisor) ; Marek, Josef (referee) ; Vítek, František (referee)
7 Abstract (AJ) Introduction Radiology examination using specialized modern imaging methods, including CT and MRI, is essential in the diagnosis of congenital and acquired diseases of the musculoskeletal system. The first part of the dissertation deals with certain congenital defects of the short femur, known in the literature as proximal femoral focal deficiency (PFFD). This part summarizes our experience with the radiological findings in the preoperative and postoperative period, with the main attention to the vascular supply to the affected area. The second part of the presentation deals with some aspects of autologous chondrocyte transplantation fixed at two different carriers implanted into post-traumatic articular cartilage defects of the distal femur. Radiological findings are evaluated in the relation to the histopathological findings. Objectives The first part of the study after the distribution of patients with PFFD by current commonly used radiographic classification sets the objective in the extent of scans of the hip joints to specify diagnosis PFFD in each patient and to evaluate in detail changes in the area of disability, especially a course of blood vessels. The evaluation of the radiation burden of repeated X-ray measurements was done with respect to the age of the patients. Tissue samples...
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Selected monogenic endocrine conditions in childhood: patophysiological connections
Obermannová, Barbora ; Lebl, Jan (advisor) ; Marek, Josef (referee) ; Čáp, Jan (referee)
Monogenic conditions are based on a single gene mutation and therefore a "rare" allele formation. Such a mutation leads to a phenotypic abnormity with autosomal dominant, autosomal recessive, or gonosmal mode of inheritance. According to mutation severity, monogenic disorders manifest either in infancy or later in life. Phenotype of the disease is caused by a total or partial absence of the gene transcript (protein product). The protein product may represent either a structural molecule or an enzyme or receptor involved in regulation of physiological processes in organism and maintenance of homeostasis. In addition, the protein may act as a signal molecule or transcription factor regulating adequate organ development and function in embryogenesis or also later in life. Monogenic conditions represent a substantial number of paediatric endocrine diseases. Exact recognition of their etiopathogenesis allows understanding of the physiological processes in human body. The phenotype-genotype correlation supports to elucidate the complex physiology of endocrine regulations. The first part is devoted to the transcription factor PROP1 which regulates embryonic differentiation of anterior pituitary. We present a Czech study investigating the frequency of PROP1 gene mutations and its functional effect on hormonal...
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The diagnosis and surgical treatment of primary hyperparathyroidism
Libánský, Petr ; Adámek, Svatopluk (advisor) ; Marek, Josef (referee) ; Haruštiak, Svetozár (referee)
Surgical management of primary hyperparathyroidism is a very effective method. The target is to cure primary hyperparathyroidism and to reach normal calcium levels. This results in an improvement of health condition and resolution or at least moderation of symptoms. Complications are infrequent and mortality is very low. Surgical management is definite, safe and effective. Number, location and surrounding structures of parathyroid glands with emphasis on parathyroidectomy were studied on 101 cadaverous bodies. We recommend the performance of parathyroidectomy in a circumscribed area 2 cm in diameter, 1 cm cranially to the intersection of the inferior thyroid artery and recurrent laryngeal nerve. We identified 75% of samples as parathyroid glands. The rest of collected samples were lymph nodes, fat particles and thyroid or lipothymic tissue. During the course of this study, we have tested techniques of miniinvazive procedures. In the following part, the bony, metabolic and biochemical syndromes are evaluated. We presented series of 151 patients that have been operated with the diagnosis of primary hyperparathyroidism. The survey is focused on the primary hyperparathyroidism and concomitant diseases and on the possible sequelae in the postoperative period. The special part is describing 10 clinical...
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Novel approaches to diagnosis and treatment of selected endocrine disorders
Ježková, Jana ; Marek, Josef (advisor) ; Haluzík, Martin (referee) ; Vladyka, Vilibald (referee)
Je známou zkušeností, že hyperkortizolismus urychluje aterosklerotické děje. Ty je možné sledovat ultrazvukovým vyšetřováním karotid a nověji též vyšetřováním cévní mikrocirkulace laser-Dopplerovskou metodou. Pro urychlení aterosklerotických změn u nemocných s Cushingovým syndromem jsou nesporně důležité známé faktory: hypertenze, obezita a hyperlipidemie. К nim se počítá zvýšená inzulínová rezistence, ale nemocní s floridním hyperkortizolismem mají normální hladiny glykemie a imunoreaktivního inzulínu. К aterogenezi u floridního hyperkortizolismu může přispívat zvýšená tvorba volných kyslíkových radikálů vznikajících při oxidaci lipidů a zvýšené hladiny pozitivního proteinu akutní fáze-orosomukoidu. Imunosupresivní charakter se projevuje snížením hladin autoprotilátek a snížením hladiny intercelulární adhezivní molekuly-1 (ICAM-1). К urychlení aterogeních dějů dochází i u nemocných, kteří jsou již dlouhou dobu po úspěšné normalizaci hyperkortizolemie. I když čerstvě operovaní a normalizovaní nemocní ztrácí do jednoho roku svou Cushingovskou obezitu, dochází později u operovaných nemocných opět к nadváze. Ta je spojena s poruchami lipidového spektra a u čtvrtiny nemocných i s hypertenzí. Nemocné po operaci pro Cushingův syndrom je nutné pravidelně sledovat, i když jsou dlouhodobě normalizováni. Je třeba u...
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Ghrelin in malnutrition of various etiologies Gherlin as a factor in the pathogenesis of systemic inflammatory response
Rosická, Martina ; Marek, Josef (advisor) ; Stárka, Luboslav (referee) ; Vrbíková, Jana (referee)
Ghrelin, the endogenous ligand for the growth hormone secretagogue receptor, was discovered in 1999 by Kojima et al. (Kojima et al. 1999). Ghrelin is composed of 28 amino acids, with a unique octanoyl modification of hydroxygroup on serine at the 3rd position. This peptide modification is entirely unique to the organism and is essential for the function of this peptide (Bednarek et al. 2000). Ghrelin is predominantly produced by cells in the oxyntic mucosa of the stomach (Date et al. 2000). According to the widespread distribution of the peptide and its receptor ghrelin has multiple biological effects. Ghrelin is a strong stimulator of the growth hormone secretion in the somatotroph cells of hypophysis (Takaya et al. 2000, Peino et al. 2000), plays an important role in signaling hypothalamic centers regulating feeding and caloric state (ghrelin leads to an increase of the food intake and a decrease of the energy expenditure) (Nakazoto et al. 2001). Its orexigenic effects are independent of growth hormone stimulation and appear to be mediated at least in part through activation of NPY/agouti gene-related protein neurons in the hypothalamic arcuate nucleus. The aim of our study is to demonstrate the change of active and total ghrelin in malnourished patient and during systemic inflammatory response and their...
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Expression of different forms of actine in some non-muscular and muscular tissues and tumors
Dundr, Pavel ; Povýšil, Ctibor (advisor) ; Marek, Josef (referee) ; Mačák, Jiří (referee)
Actins are ubiquitous eucaryotic proteins. Actin filaments are involved in diverse functions which include cell contraction, motility, adhesion, division, cell shape maintenance and muscle contraction. Four actin isoforms are tissue specific (α-smooth muscle actin, α-cardiac actin, α-skeletal actin and γ-smooth muscle actin). Two other actin isoforms (cytoplasmic β- and γ-actins) are ubiquitous. Alpha-smooth muscle actin (α-SMA) expression is typically found in vascular and enteric muscle tissue, in myoepithelial cells, myofibroblasts and pericytes. However, expression of this actin isoform could be detected in a variety of other cells and tumors with a preexisting different phenotype. Our study focused on the expression of actin isoforms in some muscular and non-muscular tissues and tumors. The goals of our study were: 1 Analysis of actin isoforms expression in normal, osteoarthrotic, posttraumatic and transplanted cartilage. 2 Analysis of actin isoform expression in some non-muscle tumors. 3 Analysis of actin isoform expression in uterine leiomyomas after therapy and in leiomyomas with inclusion bodies of the gastrointestinal tract and uterus and the detailed analysis of inclusion bodies. A total of 82 samples of cartilage, 591 samples of neuroectodermal tumors, 87 cases of breast carcinoma, and 29 cases...
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Growth hormone - IGF - 1 axis, it's regulation and function. Plasma ghrelin levels in certain pathologic states
Jarkovská, Zuzana ; Marek, Josef (advisor) ; Hainer, Vojtěch (referee) ; Mareš, Jan (referee)
Ghreliu is a peptide hormone with a strong stimulatory effect on growth hormone (GH) secretion. Ghrelin was origiu;i!íy isolated from the rat stomach as an endogenous secretagogue for the growth hormone secretagogue receptor (GHS-R). Although the fírst coinpoimds of the group of growth hormone seeretagogues were synthesized already in 1997, the isolation of the GHS-R and ghrelin is a matter of tlie last decade. Our study was aimed at the determination of the physiological role of endogenous ghrelin in GH secretion in certain pathological conditions and its associations with tlie GH/IGF-1 axis compounds. Our study was the first one detecíing also active ghrelin coucentrations. We assumed, that ghrelin secretion is aflected by the GH secretory statě. In patíents with acroinegaly we expected low ghrelin coucentrations (hypothesis 1) aud in patients with GHD we presuined, that ghrelin concentrations will be elevated (hypothesis 2) in comparison with healthy subjects as an effect of the negative feedback regulation by GH. Our findings however did not support tliese hypotheses, active and total ghrelin concentrations did not differ between patients and healthy controls. These data do not support an important role tor ghrelin in GH secretion in these conditions as well as the existence of a negative feedback...
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Evaluation of germination effect on storage proteins profiles in seeds of selected legume species
MAREK, Josef
The aim of the diploma thesis was to assess changes in pattern of legume storage proteins during germination. Four species of legumes were chosen for analyses ? Glycine max L., Lupinus angustifolius L., Pisum sativum L. and Vicia faba L. Seeds for analyses were sampled at the beginning, middle and end of germination. Proteins were extracted from lyophilised and homogenised material. These proteins were analysed by SDS-PAGE electrophoresis. The results proved that during seed germination the seed storage proteins cleave into smaller peptides, which forms new proteins. The intensity of protein bands in pea seeds was decreased in the area at around 48-45 kda and 40-36 kDa and the intensity of the proteins bands was increased at around the protein bands 25-23 kDa and 19-7 kDa. In lupine were not detected the protein bands over 39 kDa and during germination amount of protein bands in areas 15-7 kDa was increased
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