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Predictive markers for development of clinical status in multiple sclerosis patients.
Horáková, Dana ; Kubala Havrdová, Eva (advisor) ; Vymazal, Josef (referee) ; Ambler, Zdeněk (referee)
Multiple Sclerosis is a chronic neurological disease that, without therapy, causes a serious disability in a substantial number of patients. We are not able to cure the disease yet, but with current repertoire of drugs we are able to significantly influence the inflammatory part of the disease and if patients response to a therapy, we can fundamentally change their prognosis. The treatment must be started early, i. e. in a phase when axons are still preserved, optimally in a clinically isolated syndrome. A great issue at this stage is to properly estimate the prognosis of an individual patient and to choose the right treatment for the right patient. Moreover, after the start of the treatment, it is very important to carefully monitor the patient's treatment response. Among the surrogate markers that are available today, MRI is one of the most utilised in an everyday practice. Our work is trying to find the answer to the question what is the evolution of total and regional brain atrophy and which MRI parameters best reflect clinical status of an MS patient. We analysed 2- and 5-year clinical and MRI data of 181 patients from the original ASA (Avonex-Steroids-Azathioprine) study. In accordance with other papers we confirmed significant brain atrophy already in the early phase of the disease. This total...
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Molecular Pathology of Rett Syndrome
Záhoráková, Daniela ; Martásek, Pavel (advisor) ; Kubala Havrdová, Eva (referee) ; Mazura, Ivan (referee)
Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder affecting almost exclusively girls. It belongs to autistic spectrum disorders and it is characterized especially by psychomotor regression, loss of acquired speech, microcephaly, repetitive stereotypic hand movements, and seizures. Most of RTT cases are caused by de novo mutations in the gene for the methyl-CpG-binding protein 2 (MECP2) and familial cases are extremely rare. The MECP2 gene product plays an important role in chromatin remodeling, regulation of gene expression and is also involved in RNA splicing. Some atypical RTT cases are caused by mutations in other genes, such as CDKL5, FOXG1 or NTNG1. In this paper we give an overview of RTT, its clinical aspects, molecular basis, diagnostic criteria, medical management and DNA diagnosis.
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