Chapters authored
Genetic Alterations of Glioblastoma
The current research in oncology is focused on genetics and molecular oncology in order to obtain better understanding of the etiology of tumor disease. Detailed knowledge of oncogenesis mechanisms could lead to invention of effective therapeutic tools against cancer. Under healthy conditions, cell cycle is regulated by oncogenes and tumor suppressor genes, which should be in strict balance. Genesis of tumor is a consequence of the accumulation of genetic alterations, which help the cell to escape normal cellular regulatory mechanisms and destruction by immune system. Glioblastoma (GBM) is a highly malignant primary brain tumor occurring mostly in population of adults. Patients suffering from GBM have very poor prognosis. Despite development in radiology methods promising earlier diagnosis and development of clinical and radiation oncology with newer treatment regimes, the effect of therapy remains limited and prognosis of patients has not improved as expected. Target of GBM research are genes involved in response to oxidative stress and DNA damage, genes regulating cell cycle, genes determining immune response, growth factors, and others. Genetic alterations are studied in connection to their possible relationship to susceptibility of brain tissue for tumor formation, to sensitivity of brain tissue for various environmental etiology factors, to effect of anticancer treatment or resistance of tumor tissue to therapy, to overall survival, and progression-free interval.
Part of the book: Neurooncology
Primary Brain Tumors in Childhood
This chapter offers literary review of most frequently observed brain tumors in childhood. It offers basics of epidemiology, clinical presentation and diagnostics of most often occurring types of tumors according to new WHO classification of brain tumors from 2016 and emphasizes molecular biological characteristics and role of altered genes and genetic pathways in brain tumor etiology, classification and treatment. This review not only concentrates on gliomas, medulloblastomas and ependymomas, but also offers characterization of other less frequently observed lesions. Each tumor characteristics also contains basics of therapeutical possibilities of these lesions with focus on targeted and individually designed therapy according to molecular and genetic alterations found in tumor tissue sample.
Part of the book: Brain Tumors
Etiology and Pathophysiology of the Spina Bifida
The spina bifida is a congenital anomaly that results in an abnormal formation of the spine and the spinal cord. The two dominant types of spinal dysraphism are based on appearance - open spina bifida if the lesion is visible and closed spina bifida if the lesion is not visible on the body surface. These conditions lead to a different spectrum of neurological effects according to the degree of neurulation disruption. The prevalence of neural tube defects has different rates among different ethnicity, geography, gender, and countries. Genetic, nutritional and environmental factors play a role in the etiology and pathogenesis of the spina bifida. Congenital anomalies in the vast majority concern children living in the early neonatal period who have important medical, social or educational needs. The lifetime cost of a child born with the spina bifida is estimated at over €500,000.
Part of the book: Spina Bifida and Craniosynostosis
Management of Pediatric Patients with Spina Bifida
Spina bifida is a neurodevelopmental disorder and belong to most common congenital malformations. It is a neural tube defect that originates within first 28 days after conception. Although survival rate of these patients had changed rapidly within last decades, neural tube defects are still cause of substantial part of children morbidity. Occult type of spina bifida is a simple nonunion of vertebral arch without causing any symptoms. Open defects according to degree of involvement of neural tissue cause symptoms such as paralysis of lower extremities, bladder and bowel morbidity, delay in development of cognitive functions of various severity and other possible complications affecting morbidity of these patients. Early diagnosis and treatment of open spina bifida and accompaying complications is crucial and largely affects the outome. Succesfull treatment requires lifelong cooperation of a whole range of specialists and guiding of treatment by primary care doctor. Survival and quality of life are associated with acces to proper medical and surgical treatment as well as community support systems. This chapter offers overview of this topic with emphasis on general management of patients suffering from this congenital malformation.
Part of the book: Spina Bifida and Craniosynostosis