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The detection of cognitive dysfunction in multiple sclerosis
Blahová-Dušánková, Jana ; Kubala Havrdová, Eva (advisor) ; Papežová, Hana (referee) ; Rektorová, Irena (referee)
Evaluation of cognitive impairment is often omitted in multiple sclerosis (MS), as the available instruments usually require considerable time and resources, and are not readily available in all countries. The aims of this study were to examine validity of the Czech translation of the MACFIMS (Minimal Assessment of Cognitive Function in MS), to validate the BICAMS (Brief International Cognitive Assessment for MS) and to compare outcomes of the MACFIMS and the BICAMS. We evaluated 367 MS patients and 134 healthy controls with the MACFIMS battery, which also comprises the 3 tests of the BICAMS (Symbol Digit Modalities Test, Brief Visuospatial Memory Test- Revised, California Verbal Learning Test, second edition). The most accurate BICAMS criterion of cognitive deficit was that of at least 1 of the overall 3 tests outside the normal range (sensitivity = 94%, specificity = 86%, p=10-28). Outcomes of the Czech translation of the MACFIMS were comparable to its original. The MACFIMS and the BICAMS identified cognitive deficit in 55% and 58% of the MS patients, respectively. Both the BICAMS and MACFIMS predicted patient vocational status. The BICAMS is highly sensitive and specific to cognitive impairment in MS as defined by the MACFIMS. This impairment is significantly associated with vocational status. Our work...
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Lymphocyte subpopulations, cytokine production and stem cells transplantation in multiple sclerosis patients
Krasulová, Eva ; Kubala Havrdová, Eva (advisor) ; Ehler, Edvard (referee) ; Syková, Eva (referee)
Multiple sclerosis (MS) represents a demyelinating disease of the central nervous system with known autoimmune etiology. Currently new diagnostic criteria are used allowing us to diagnose MS early after first relapse of clinical symptoms. Several drugs are available to reduce disease activity and postpone later MS stages with irreversible disability. Prognosis of an individual patient and accurate treatment is however defined only imperfectly based on our clinical experience and brain magnetic resonance imaging. Specific prognostic markers are missing. Aims: 1. To identify suitable prognostic immunological marker from peripheral blood of MS patients in different disease stages and under different treatment regimens; 2. To describe group of MS patients treated with autologous stem cells transplantation (ASCT) or allogeneic stem cells transplantation (alloSCT) with respect to efficacy, adverse events and accurate patient selection. Patients and methods: In the first part of the study we involved 33 patients with clinically isolated syndrome, 17 MS patients treated with natalizumab and 14 patients with aggressive MS treated with ASCT. Disability measured by Expanded Disability Status Scale (EDSS) as well as relapse rate were evaluated before treatment (baseline) and after 3, 6, 12 and 24 months after...
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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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