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Evaluation of incidence and importance of specific organic and functional changes of central nervous system in patients with neurofibromatosis type 1
Glombová, Marie ; Komárek, Vladimír (advisor) ; Nevšímalová, Soňa (referee) ; Starý, Jan (referee)
The aim of the study was to evaluate the importance of brain MRI's findings, and modify the criteria for brain MR imaging in NF1 patients according to this data, to improve the quality of life with early detection of important NF1 complications. Description of the whole cohort, with emphasise to possible cause of high range of sporadic NF1 cases. Evaluation the possibility diagnosis or follow up of brain gliomas by plasmatic values of neuron specific enolase (NSE) and S100B protein. Subjects and methods: I analysed data from 285 NF1 children followed up on our department from 1990 to 2010 by the same examination battery. I evaluated the incidence of brain MRI findings, clinical development, age at gliomas manifestation and necessity of treatment. I also described the whole cohort and made statistic analysis of plasmatic values of NSE and S100B protein in NF1 patients, with and without brain gliomas. Results: OPGs were found in 77/285 (27 %) children and GOOPs in 29/285 (10.2 %) of NF1 children, of who 19 had OPG and GOOP together, so the total number of brain glioma was 87/285 (30.5 %). Totally, 43/87 (49.4 %), respectively 43/285 (15.1 %) children with brain glioma were treated, and 4/285 (1.4 %) of this children died. Obstructive hydrocephalus was found in 22/285 (7.7 %) patients and was caused...
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Development of photic entrainment of the circadian clock of the rat during early postnatal ontogenesis
Matějů, Kristýna ; Sumová, Alena (advisor) ; Höschl, Cyril (referee) ; Langmeier, Miloš (referee) ; Nevšímalová, Soňa (referee)
In most organisms, behavioral and physiological events oscillate with period ± 24 h, i.e. exhibit circadian rhythms. In mammals, circadian rhythms are generated by circadian clock within the suprachiasmatic nuclei of the hypothalamus (SCN). Light entrains circadian rhythms to the 24 h period of solar day. Information about light is conveyed from the retina to the SCN and induces expression of clock genes Period1 (Per1) and Period2 (Per2) that represent photosensitive parts of molecular circadian clockwork within SCN. Light sensitivity of Per1 and Per2 within SCN is temporally restricted to the subjective night phase. In addition, daily profiles of clock gene expression within SCN are modulated by daylenght, i. e. the photoperiod. The aim of our study was to elucidate how the mechanism of photic entrainment of the rat circadian clock develops during prenatal and early postnatal ontogenesis. Our results demonstrate that maternal circadian system provides information about external light to the fetal and early postnatal circadian clock. Circadian clock within the SCN of rat pups is light sensitive already at the first postnatal day. Mechanism gating the light sensitivity is present at postnatal day 3 and gradually maturates until postnatal day 10. The data suggest that the developing retina is responsive to...
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Molecular genetic investigation of autosomal dominant demyelinating forms of Chrcot-Marie-Tooth hereditary neuropathy and in Pelizaeus-Merzbacher disease
Vyhnálková, Emílie ; Seeman, Pavel (advisor) ; Nevšímalová, Soňa (referee) ; Martásek, Pavel (referee)
We evaluated the relative frequency of each mode of inheritance in the large group of CMT fam i1ies gathered in the DNA laboratory of the Dept. of Child Neurology of the 2nd Medica! School (including famiJies wi th already detected causal mutations). The frequency of dominant and sporadic forms is approximately equal (40% of families). In a small percentage of families (2 0k'), the autosomal recessive (AR) mode of inheritance (two or more affected siblings) was recognized. In the rest of the families (18%) there are not enough reliable data on the clinical state of the family members to indicate the mode of inheritance. Further we evaJuated the rela tive frequency of inheritance modes in the "unconfirmed" group of CMT families with ou t detected causal mutation (which previously tested negative for the CMTlA / HNPP forms and / or for mlltations in some of the following CMT-associated genes - Cx32, MPZ, PMP22, EGR2, NEFL, SIMPLE). The frequency of dominant and sporadic forms in this group is somewhat different from the large cohort of families. The frequency of dominant pedigrees is low r (30%) and the frequency of sporadic cases higher (50%). This may indicate that, in general, we can expect the detection rate of CMT causes to be higher in dominant pedigrees compared to sporadic CMT cases. In this study I...
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Alternative methods in the surgical treatment of mesial temporal lobe epilepsy
Vojtěch, Zdeněk ; Nevšímalová, Soňa (advisor) ; Šonka, Karel (referee) ; Komárek, Vladimír (referee)
Purpose: The aim of the study was to evaluate effectiveness and complications of alternative methods of stereotactic treatment (gamma knife radiosurgery and radiofrequency amygdalohippocampectomy) in mesial temporal lobe epilepsy due to mesial temporal sclerosis. Methods: Both patient groups underwent a standard preoperative epilepsy evaluation. Both procedures were planned according to the individual anatomy of each patient. Between November 1995 and May 1999, 14 patients underwent Leksell Gamma Knife radiosurgical amygdalohippocampectomy with a marginal dose of 18, 20, or 25 Gy to the 50% isodose following. Between April 2004 and October 2009 a group of 51 patients was treated using stereotactic thermo-lesion of the same mesiotemporal structures. Lesions were performed using a string electrode inserted through the occipital approach with a single trajectory. Results: In the radiosurgical group, one patient was classified as Engel Class Ib, three were Engel Class IIc, four were Engel Class IIIa, five were Engel Class IVb and one was Engel class IVc 39 months after treatment. One patient was classified as Engel Class Ib, three were Engel Class IIc, one was Engel Class IIIa, and two were Engel Class IVb in a subgroup of seven patients who were unoperated 2 years prior to the last visit and at least 8...
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Thymectomy and immune mechanisms in patients with myasthenia gravis
Jakubíková, Michala ; Nevšímalová, Soňa (advisor) ; Bojar, Martin (referee) ; Špalek, Peter (referee)
Myasthenia Gravis (MG) is an autoimmune disease affecting neuromuscular transmission, in which the thymus is considered pathogenic organ. Earlier ideas suggesting that MG is only the receptors disease have been proven wrong. There are immunopathological changes in both target structures [specific receptors for acetylcholine (AChR] muscle-specific tyrosine kinase (MuSK) and low-density lipoprotein 4 (Lrp4)], the thymus, as well as in peripheral lymphoid organs. Initial findings of the humoral immunity defect with the decisive role of the pathologic autoantibodies, were corrected with findings of the immune dysregulation at the level of T lymphocytes. According to today's knowledge, the development and maintenance of MG involves almost all cell types of immune function in the autoimmune inflammation: helper CD4+ T lymphocytes, cytotoxic CD8+ T lymphocytes, regulatory CD4+CD25+ T lymphocytes, Th17 lymphocytes, B lymphocytes and plasma cells. Thymus plays a dominant immunopathogenetic role in younger patients with MG, while extrathymic mechanisms are applied in older patients. As a result of that, the thymectomy (TE) is generally accepted as part of treatment for MG. However, there is still no data verified by a prospective controlled study, which would demonstrate a useful result of this treatment...
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Identification of the predictors of cognitive dysfunction in children with intractable epilepsy
Novák, Vilém ; Kršek, Pavel (advisor) ; Nevšímalová, Soňa (referee) ; Aulická, Štefania (referee)
Epilepsy affects approximately 0,5-1% of children. Epileptic seizures originate in and propagate along certain neural pathways involved in physiological processes of cognition. Consequently, cognitive impairment frequently accompanies epilepsy in childhood and contributes to diminished quality of life of these patients.The main goal of this PhD thesis was to study multiple aspects of cognitive impairment in children suffering from intractable focal epilepsy. In the first and primary study, we described for the first time the negative impact of quasi- periodic epileptiform discharges in sleep (termed "hurdles" in our work) on cognitive functions in children with focal structural epilepsy. We have also shown that epileptiform activity in sleep has a more prominent negative impact on cognitive functions than epileptiform activity in wake. Although "hurdles" are by definition generalized, they do not predict worse outcomes of epilepsy surgery, compared to controls. In the second study, we analyzed the relationship between the extent of epileptogenic zone, functional brain plasticity (evaluated by fMRI) and cognitive dysfunction in children with drug resistant temporal epilepsy. Comparing patients with isolated focal cortical dysplasia (FCD) and patients with combined pathology (FCD and hippocampal...
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Evaluation of incidence and importance of specific organic and functional changes of central nervous system in patients with neurofibromatosis type 1
Glombová, Marie ; Komárek, Vladimír (advisor) ; Nevšímalová, Soňa (referee) ; Starý, Jan (referee)
The aim of the study was to evaluate the importance of brain MRI's findings, and modify the criteria for brain MR imaging in NF1 patients according to this data, to improve the quality of life with early detection of important NF1 complications. Description of the whole cohort, with emphasise to possible cause of high range of sporadic NF1 cases. Evaluation the possibility diagnosis or follow up of brain gliomas by plasmatic values of neuron specific enolase (NSE) and S100B protein. Subjects and methods: I analysed data from 285 NF1 children followed up on our department from 1990 to 2010 by the same examination battery. I evaluated the incidence of brain MRI findings, clinical development, age at gliomas manifestation and necessity of treatment. I also described the whole cohort and made statistic analysis of plasmatic values of NSE and S100B protein in NF1 patients, with and without brain gliomas. Results: OPGs were found in 77/285 (27 %) children and GOOPs in 29/285 (10.2 %) of NF1 children, of who 19 had OPG and GOOP together, so the total number of brain glioma was 87/285 (30.5 %). Totally, 43/87 (49.4 %), respectively 43/285 (15.1 %) children with brain glioma were treated, and 4/285 (1.4 %) of this children died. Obstructive hydrocephalus was found in 22/285 (7.7 %) patients and was caused...
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Thymectomy and immune mechanisms in patients with myasthenia gravis
Jakubíková, Michala ; Nevšímalová, Soňa (advisor) ; Bojar, Martin (referee) ; Špalek, Peter (referee)
Myasthenia Gravis (MG) is an autoimmune disease affecting neuromuscular transmission, in which the thymus is considered pathogenic organ. Earlier ideas suggesting that MG is only the receptors disease have been proven wrong. There are immunopathological changes in both target structures [specific receptors for acetylcholine (AChR] muscle-specific tyrosine kinase (MuSK) and low-density lipoprotein 4 (Lrp4)], the thymus, as well as in peripheral lymphoid organs. Initial findings of the humoral immunity defect with the decisive role of the pathologic autoantibodies, were corrected with findings of the immune dysregulation at the level of T lymphocytes. According to today's knowledge, the development and maintenance of MG involves almost all cell types of immune function in the autoimmune inflammation: helper CD4+ T lymphocytes, cytotoxic CD8+ T lymphocytes, regulatory CD4+CD25+ T lymphocytes, Th17 lymphocytes, B lymphocytes and plasma cells. Thymus plays a dominant immunopathogenetic role in younger patients with MG, while extrathymic mechanisms are applied in older patients. As a result of that, the thymectomy (TE) is generally accepted as part of treatment for MG. However, there is still no data verified by a prospective controlled study, which would demonstrate a useful result of this treatment...
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