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Autism spectrum disorderčs in the education system of the secondary nursing schools
Niederlová, Veronika ; Zemková, Jaroslava (advisor) ; Němec, Zbyněk (referee)
Autism spectrum disorders (ASD) are characterized by deficits in the areas of communication and social interaction, stereotypic behaviour and changes in the sensory processing. These symptoms pose challenges to everyday situations such as visits to the doctor's office, which are more stressful for children with ASD and their parents than for the general population. Furthermore, more than one-third of parents have encountered refusal to provide medical care for their child because of ASD. In our diploma project, we combined the parent's reports with an analysis of international sources to create a project called AutFriendly which aims to increase the knowledge of the Czech healthcare practitioners about ASD. In the presented thesis, we summarize the theoretical background in the field of healthcare provision for people with ASD and we review current Czech and international literature to show how the topic of ASD is addressed in the education of healthcare practitioners. In the practical part of the thesis, we summarize our two-year experience with the AutFriendly project. First, we created a two- hour AutFriendly workshop for the students of secondary schools of nursing and we put it into practice with more than 250 participating students of the Czech secondary schools of nursing. Second, we...
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Genetic and molecular basis of Meckel-Gruber syndrome
Václavková, Vendula ; Krylov, Vladimír (advisor) ; Niederlová, Veronika (referee)
Meckel-Gruber syndrome (MKS) is rare multisystemic, autosomal recessive hereditary disorder, which appears in different places around the world. MKS is classified as a ciliopathy. These disorders are caused by defects of primary cilium, cell's signaling organelle, during embryogenesis. Meckel-Gruber syndrome represents the most severe form of ciliopathy in human population. MKS is caused by mutation in several genes, involved in correct formation of primary cilium. Until this day, 13 genes have been confirmed. As a result we distinguish 13 types of MKS. More genes are also included in MKS origin, but they do not define solo type of MKS. They are called MKS-related genes. The syndrome was recognized mainly on the basis of clinical cases. A big amount of cases was described in consanguineous families. The MKS is characterized by occipital encephaloce, polycystic kidney disease and polydactyly of hands and feet. These symptoms are common with all 13 types. Syndrome also goes with disorder of nervous and renal system, face defects or undefined genitals. Key words: Meckel-Gruber syndrome, ciliopathy, primary cilium, autosomal recesive, hereditary disease, consanguineous origin, occipital encephaloce, polycystic kidney disease, polydactyly
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Role of Bardet-Biedl syndrome (BBS) protein complex in T cells
Niederlová, Veronika ; Štěpánek, Ondřej (advisor) ; Černý, Jan (referee)
BBSome is a protein complex crucial for trafficking of specific cargoes to the primary cilium. Although primary cilia are typically not present in cells of haematopoietic origin, such as T cells, recent research has revealed striking parallels between the primary cilium and the immunological synapse. Amongst other similarities, both structures are supposed to use the same transport machinery involving Rab8 and IFT20, the close interaction partners of BBSome. The first goal of this thesis was to investigate the role of BBSome in the biology of T cells. Using RT-qPCR, we have shown that BBSome subunits are expressed in lymphoid tissues and T cells. Studies of localization of BBSome subunits in Jurkat cell line and primary OT-I T cells revealed that the subunits have distinct localization patterns with BBS4 localizing to the centrosome and BBS1, BBS5, and BBip10 having dispersed localization. After the contact with an antigen presenting cell, BBS4 re-localizes to the immunological synapse. Mutations in BBSome encoding genes cause Bardet-Biedl syndrome (BBS), a rare ciliopathy presenting with multiorganic symptoms. The second goal of this thesis was to examine the associations between BBS and the immune system. Examination of medical records of more than 450 BBS patients revealed that autoimmune...
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The role of immune system in autism
Niederlová, Veronika ; Otáhal, Jakub (advisor) ; Hájková, Michaela (referee)
Autism is a complex neurodevelopmental disorder with yet unknown etiology. The research point out abnormalities in the immune system of pacients with autism, which could be related to the development of the disease. This thesis reviews current scientific knowledge about the role of the immune system in the development of autism. The leading chapters include family history of autoimmune diseases, specific HLA alleles, the most common autoantibodies and maternal antibodies, lowered NK cell activity and cytokine levels in pacients with autism. Powered by TCPDF (www.tcpdf.org)
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