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Molecular genetic and clinical neurological exmaination in autosomal recessive forms of hereditary neuropathies Charcot-Marie-Tooth
Baránková, Lucia ; Bojar, Martin (advisor) ; Martásek, Pavel (referee) ; Voháňka, Stanislav (referee)
The Charcot-Marie-Tooth (CMT) diseases are the most common inherited neuropathies. CMT is characterized clinically by distal muscle wasting and weakness, reduced reflexes and impaired distal sensation and by a sensory motor neuropathy neurophysiologically. The severity of the disease varies enormously depending to a large extent on the underlying genetic defect. The current clinical classification of CMT is done using electrophysiological criteria into type 1 (demyelinating) and type 2 (axonal) and further sub-classification is done according to inheritance pattern. A solely genetic classsification is not possible at present as all the causative genes for CMT are not known. Autosomal recessive CMT (AR CMT) forms are rare in European populations. The responsible genes have been discovered just in recent years. The disease has usually early onset and fast progressing and severe course. Mutations in GDAP1 gene (ganglioside- induced differentation associated proteine-1) soon showed to be the most common cause of CMT in families with AR pedigrees. They were found in patients with demyelinating (CMT4A) as well as axonal (CMT4C4) CMT. Common GDAP1 mutations are consquence of founder effect. Mutations in PRX (periaxin) gene are responsible for demyelinating CMT type (CMT4F). Approximately in a half of the CMT...
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Comparison of chemical composition of throughfall and deposited precipitation
Chaloupecký, Pavel ; Špičková, Jitka ; Fišák, Jaroslav ; Skřivan, Petr
Since June 2004 throughfall samples in beech and spruce vegetation have been taken at the observatory Milesovka. Ever since 1998 fog water samples have been taken there as well. In this paper are compared the concentrations of main ions and trace elements in throughfall and in deposited precipitation. The concentrations of main ions and trace elements in throughfal are primarily affected by the volume of samples. The highest concentrations of monitored sustances in throughfall were recorded in September and in October when the lowest rainfall totals were measured. The concentrations of monitored sustances were in throughfall mostly higher in spruce vegetation in comparison with beech vegetation. It is probably due to the thicker treetop in spruce vegetation on Milesovka observatory. Due to the thicker treetop a smaller volume of throughfall is let fall and the substances from ambient air are captured more effectively in comparison with beech vegetation. In the case of main ions the lowest concentrations were measured in fog water samples. For trace elements wasn´t data. From comparison with reference locality Lesni potok is obvious that concentrations of monitored sustances in throughfall on Milesovka exceed sharply concentrations in locality Lesni potok. This difference is considerably higher by spruce vegetation in comparison to beech vegetation which indicate that it is necessary take not only local air quality into account but also type of vegetation and thick of treetop which can very significantly contribute to the chemical composition of throughfall.
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Bimodal distributions
Došlá, Šárka ; Dupač, Václav (referee) ; Anděl, Jiří (advisor)
We study the bimodality of the mixture of two unimodal distributions. In the special cases we give necessary and su±cient conditions ensuring the bimodality of such mixtures. We study the probability of the event that the histogram of a random sample from unimodal distribution indicates two peaks. For some types of unimodal distributions it is possible to simplify this problem and we can study histograms of samples from uniform distribution instead. We show that for increasing number of observations the probability that histogram with N classes has two peaks tends to the probability that the random permutation of numbers 1;...;N is bimodal.
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Wheelchair sports-current possibilities and attitudes of persons with physical disability in the Czech republic
Suchý, Filip ; Křiček, Jan (advisor) ; Kábele, Josef (referee)
Wheelchair sports - current possibilities and attitudes of persons with physical disability in the Czech Republic Objective: To describe current problems in sports activit ies fo r d isabled persons in t he Czech Republic (taken from t he ir viewpo int ). Methods: Method o f direct questioning in t he fo r m o f a regulated interview. Results: Research result s e nabled a t hourough int erpretation of t he current s it u a t ion and opportunit ies in sports fo r disabled persons in t he Czech Republic. Research was c a r r ied o u t wit h a group of disabled persons. Keywords: wheelchair sports, regulated int erview, possibilit ies and attitudes of handicapped.
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The effects of zinc ions on breast tissue cancerogenesis
Kratochvílová, Monika ; Stiborová, Marie (referee)
The concept of breast cancer describes a wide range of serious diseases. It is one of the most common cancer diseases among women worldwide. The most difficult and problematic subtype is the triple negative breast cancer. This subtype is characteristic by the loss of expression of hormon receptors and HER-2, which makes it unresponsive to available targeted therapy. The breast cancer, as well as other malignancies, has a relationship withzinc ions. Zinc is an essencial element and it is involved in many of important cellular processes and thus it is able to directlyor indirectly affect the cancerogenesis. Increased levels of zinc ions in malignant breast cancer tissue compared to healthy tissue were well described. However, zinc has documented anticancer properties. The aim of this study was to determine if excessive suplementation with zinc ions has an effect on breast cancer development in vivo. The cell line 4T1 was chosen as a model of the triple negative subtype in mus musculus. The mouse strain BALB/c was used as an animal model. A total dose of zinc sulphate per one gram of mouse weight used in the experiment was 0.15 mg. We determined not only the growth of primary tumour, but also an expression levels of selected genes and antioxidant capacity of the whole organism. The volume of primary...
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Financial support to the families with children in the different types of welfare state
Neumanová, Monika Catherine ; Munková, Gabriela (advisor) ; Hejzlarová, Eva (referee)
The diploma thesis "Financial support to the families with children in the different types of welfare state" deals with the direct governmental financial support to the families with children in the Czech Republic. The thesis provides with a brief survey of the system of these tools in the states analyzed with the thesis, i.e. United Kingdom as a residual welfare state, France as a corporative welfare state and Sweden as a social democratic welfare state. The practical part of the thesis is dedicated to the comparative analysis of the systems of the benefits in these states. Based on the results of comparative analysis, recommendations for measures and changes in the current Czech system are made. The recommendations reflect the needs and priorities of current family policy in the Czech Republic. The final part of the thesis was focused on detailed analysis of selected tools with a view to evaluate to which extent these tools contribute to the desired income equality between families with children and without children. Detailed adjustments in the system of the benefits, which were identified and suggested in the thesis, were evaluated by chosen experts in the given area. Final conclusions and recommendations were formulated.
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Glass Finds of the Roman Period in Bohemia
Kacl, Pavel ; Košnar, Lubomír (advisor) ; Venclová, Natalie (referee)
The thesis is focused on the finds of glass and faience which are to be found in the form of beads and pendants, vessels, inlays, game pieces, bracelets and a "window" in the bottom of a ceramic urn. The most common are glass and faience beads. Their occurrence increases in the Late Roman Period substantially when new ornament styles come into being as well. Because of the predominant cremation rite, the knowledge is limited for the poor condition as a large amount of glass artefacts was deformed. In view of the fact that the majority of the beads originates from the classical antiquity world, they represent a vast number of imported goods, which may have been traded in Barbaricum as well. The long necklaces reflect obviously the higher social status of buried women. Nevertheless, the same statement cannot be considered to be applicable for lower numbers of beads in graves. Even some male graves with beads are known. The elite milieus are indicated also by the glass vessels, rather rare in the Roman Period Bohemia, the inlays on brooches or rings, as well as the game pieces. The Roman glass bracelets represent a rare sort of artefacts in Barbaricum. It is also possible to encounter some residues of the Iron Age glass, mostly on the settlements. Keywords glass - faience - Roman Period - imports - Bohemia
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