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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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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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Genomic abberations in brain glioma cells
Šediváková, Kristýna ; Zemanová, Zuzana (advisor) ; Březinová, Jana (referee)
Brain gliomas represent a heterogeneous group of tumors of various histological subtypes which differ according to their response to treatment and prognosis. Tumors created from astrocytes and oligodendrocytes occur most often. During brain tumor onset and progression, the genomic aberrations in brain glioma cells play an important role. Diagnostic detection of diffuse glioma tumors based on cell morphology is subjective. Due to their locations and diffuse character, glioma treatment is still a problematical issue. Therefore, new diagnostic and prognostic techniques must be developed which would make a more effective treatment possible, resulting thus in lower morbidity and mortality rates. An option is to sub-classify patients into diagnostic groups based on detection of specific chromosome aberrations detected by combination of I-FISH and microarray techniques. Use of molecular cytogenetic methods not only contributes to more precise diagnosis and prognosis for patients with diffuse glioms, but also to better understanding of the pathogenesis of brain tumors. Keywords: Brain glioma, genomic aberrations, astrocytic tumors, oligodendroglial tumors, molecular cytogenetic methods
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