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Therapeutic strategies in cystic fibrosis
Křesťan, Jan ; Bořek Dohalská, Lucie (advisor) ; Hudeček, Jiří (referee)
Cystic fibrosis is an autozomal recessive disease caused by mutations in the CFTR gene. The aim of this work is conclusion of therecent knowledgefrom theusage of CFTR modulators in the treatment of cystic fibrosis. The first part of this bachelor thesis is dedicated to the disease itself, its history and symptoms. In the form of description of the CFTR gene and its mutations which lead to the cystic fibrosis disease, the causes of the disease are described. Function of CFTR protein is also mentioned. The second part of this thesis is focused on conclusion of the current knowledge of the CFTR modulators treatment. In the last chapter of the work, possible future changes and ways of treating patients with CFTR modulators therapy are considered.
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Motility and virulence of bacterial pathogens in patients with cystic fibrosis
Benešová, Nikol ; Melter, Oto (advisor) ; Smělíková, Eva (referee)
Cystic fibrosis is an autosomal recessive disease that mainly effects the Europoid race. The disease is caused by a mutation in the cystic fibrosis transmembrane conductance regulator gene. This gene encodes the formation of chloride channel proteins. The disease leads to the formation of highly viscous secretions from the exocrine glands. The most commonly affected organ is the lung, which accumulates mucus and bacteria. Bacteria that colonize the lungs of patients with cystic fibrosis are exposed to many stress factors such as large amounts of mucus, oxidative stress, antibiotics and immune system of the host. That leads to the selection of mutants that are better adapted to the environment of the lungs. In acute infection, one of the important virulence factors for bacteria is their motility. Motility is provided by flagella and allows the bacterium to move to sites with higher nutrient content and to colonise different parts of the lung. In chronic infection, we can see changes in the genotype and phenotype of bacteria. Nonmotile mutants are selected because they activate the immune system less than motile bacteria, that helps in the persistence of bacteria in the lungs. Chronic infections lead to a higher mortality rate. The aim of this bachelor's thesis is to compare the motility of bacteria...
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Background innate reflex locomotion patterns of movement and ventilation in children patients with chronic respiratory diseases
Plešková, Jana ; Pohunek, Petr (advisor) ; Sedlák, Vratislav (referee) ; Homola, Lukáš (referee)
Reflex locomotion according to Professor Vojta (VRL) is based on the activation of complex motor patterns from certain defined positions with stimulation of the so-called trigger zones, located on the human's body. It is primarily used in patients with neurological deficits; however, it is currently also being used in internal medicine. It has been reported that VRL can indirectly affect breathing, however its use in paediatric patients with chronic respiratory disease has not yet been investigated. As part of this theses, a randomized controlled single-centre intervention study was conducted. Its aim was to evaluate the short-term effects of VRL on lung function in paediatric patients with cystic fibrosis (CF) with normal baseline spirometry. The effect of a 30minute VRL intervention was compared in a crossover design with the effect of positioning (without stimulation of trigger zones). The primary outcome was the change in global ventilation inhomogeneity, assessed by lung clearance index (LCI2.5) derived from nitrogen multiple breath washout test. Secondary outcomes included changes in regional ventilation inhomogeneity (indices of acinar [Sacin*Vt] and conductive airways [Scond*Vt] inhomogeneity) and spirometric parameters (inspiratory capacity, forced vital capacity, and forced expiratory...
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Interaction of bacterial lectins with human lung epithelium
Vyhnalová, Kateřina ; Hodek, Petr (advisor) ; Bořek Dohalská, Lucie (referee)
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene encoding the same named chloride channel, which is present on the apical membrane of epithelial cells. As a consequence of these mutations, the transepithelial transport of ions and the regulation of other ion channels are impaired. Cystic fibrosis affects primarily respiratory system, where, as a result of the dysfunction of the CFTR protein, is an accumulation of excessively viscous mucus and altered glycosylation of saccharide structures on the surface of the lung epithelium. This pathological condition predisposes CF patients to bacterial lung infections, the leading cause of death in CF patients. The most common pathogen colonizing the respiratory system of CF patients is Pseudomonas aeruginosa (PA). For adhesion to host tissue, PA uses several virulence factors, including lectin PA-IIL, which exhibits an unusually high affinity for L-fucose. In this work the influence of selected monosaccharides and multivalent fucose-based inhibitors (glycoclusters) on PA-IIL binding to human lung epithelium was investigated. To assess the effect of these agens ex vivo, paraffin-embedded formalin-fixed human lung tissues (FFPE tissues) from a healthy individual and...
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Evaluation of effect of mobile application CF Hero on compliance of inhalation treatment and respiratory physiotherapy of pediatric and juvenile patients with cystic fibrosis
Jirásek, Martin ; Plešková, Jana (advisor) ; Pokorný, Jan (referee)
This diploma thesis deals with the adherence to inhaled treatment, its measurement, telemedicine and telerehabilitation and the possible use of the CF Hero mobile app in paediatric patients with cystic fibrosis. In the theoretical part, it presents knowledge about cystic fibrosis, adherence to treatment in patients with cystic fibrosis and possibilities of its measurement, telemedicine and telerehabilitation. The practical part describes the CF Hero mobile app, which has been the target of measurements on several patients. At the same time, a questionnaire was developed focusing on satisfaction with the use of this mobile application. Methods: The practical part was conducted as a multicentre prospective cross-over study investigating the effect of the CF Hero mobile app on adherence to inhaled treatment, respiratory quality of life and chest excursion The evaluation was conducted over a 6-month period, with the primary objective being to measure the amount of exhaled solution relative to the prescribed amount. Simultaneously, each patient underwent 3 identical examinations. These examinations included spirometric testing (FEV1, FVC, MEF50), measurement of chest excursion (axillary, mesosternal, xiphoid) and quality of life assessment using the CFQ-R questionnaire. It also included measurement of...
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Social impacts of Cystic fibrosis disease on children of various age
FILIPI, Kateřina
The bachelor thesis is called Social impacts of Cystic fibrosis disease on children of various age. Cystic fibrosis is a disease which can be treated, but it cannot be completely cured yet. It is a disease that affects mostly the lungs where a thick mucus is gradually built and is hard to get rid of. However, it impacts other organs too. Cystic fibrosis is considered to be a rare disease because in the Czech Republic there are approximately 600 patients only. The aim of this bachelor thesis is to find out what aspects of life are impacted the most by the cystic fibrosis. The main focus was on the families with children who are diagnosed with the disease. Not only is the disease financially demanding, but also it impacts social life as people suffering from it should avoid contact with a large number of people because they are at higher risk of getting sick. People suffering from the disease face many restrictions, therefore they can feel disadvantaged compared to their peers. The research question was formulated as follows: What are the most common social impacts on a family with a child that is suffering from cystic fibrosis? Given the aim of the thesis, I used qualitative research, specifically interviews. In the empirical part, the snowball technique for the interviews was used. Seven families with children suffering from cystic fibrosis participated (9 - 17 years old). The results suggest that the most common social impact of the cystic fibrosis is a limited choice of a future occupation. Due to the strict restrictions which are placed on people suffering from the cystic fibrosis it is not possible to pursue just any profession that patients would want to. Another issue is that many families are not entitled to social benefits due to unjust decision making.
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Analysis of gene polymorphisms in the MBL2 gene and its diagnostic significance
PEŠKOVÁ, Jana
MBL2 gene codes a protein called mannose binding lectin, a component of our immune system. This protein takes a part in a nonspecific humoral immune response, opsonizing pathogenic microorganisms and providing activation of the lectin pathway in the complement system, leading to elimination of pathogens and simultaneously inducing the inflammation. MBL deficiencies are widely researched in cases of recurrent infections, autoimmune diseases and others. MBL-protein serum level is affected by polymorphisms in MBL2 gene, located in three codones marked as '52', '54' and '57'. A mutation of the '52' codon is referred to as an allele D, for the '54' codon as an allele B and for the '57' codon as an allele C. In many cases the alleles might be referred to as the alleles zero (0), or as an 'A' in the case of wildtype alleles. Other polymorphisms are located in non-translated locations. The first one may be found in the promotor 1, in a position -550 (variants H/L); the second one in a position -221 (variants X/Y); and the third one in a non translated 5'-end-part of a locus in a position +4 (variants P/Q). The practical part of this bachelor thesis was executed in the genetic lab in the company GENLABS s.r.o., České Budějovice. I focused on the analysis of MBL2 polymorphisms located in exon 1 (alleles B, C, D). I examined 30 patient samples, 25 of them were provided by patients with ongoing dementia and 5 of the samples were taken from patients with no signs of dementia. The protocol of the analysis consisted of an isolation of DNA, a measurement of DNA concentration, a preparation and an execution of a PCR method followed by a control of the products in a gel electrophoresis. These PCR products were then purified and sequenced. A precise description of the analysis including an overview of the obtained results are summed in the practical part of this bachelor thesis.
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The perspective of the classroom climate regarding a child suffeing from a chronic illness
DUŠKOVÁ, Barbora
The diploma thesis deals with the issue of a pupil with chronic disease and his/her impact on the class environment. In the theoretical part, the characteristics of selected chronic diseases are processed, as well as basic information about the disease in connection with the psyche. It is followed by school legislation concerning pupils with special educational needs, the topic of the school class as a social group and basic information regarding the environment of the class. In the practical part, interviews with chronically ill pupils and their class teachers are processed as well as the questionnaires which were filled out by classmates of the pupil with the disease. The research survey focuses mainly on the feelings of the pupil with chronic illness in the school environment, the attitude of the teacher towards the ill pupil and its impact on mutual relations in the classroom. Pupils with chronic diseases who participated in our research survey have no problem with integration into the classroom.
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The life of people with cystic fibrosis in terms of social needs and quality of life
TŮMOVÁ, Markéta
The objective of the bachelor's thesis is to find out how Cystic fibrosis family members assess their situation in term of their social needs fulfilment and quality of life. Two research questions were defined to achieve the selected objective: How is the aspect of quality of life assessed by CF families? How are CF families' social needs satisfied? The right form for this thesis research proved to be the qualitative research. The selected method was questioning with two techniques used a closed-question questionnaire and a narrative interview. The research was divided into two stages. The closed-question questionnaire was used during the first study stage and the S1 research group including 29 respondents was created by snowball sampling. Three respondents from the S1 research group were selected to participate in narrative interviews in the second research stage. Out of original sample, those patients were chosen who had been suffering from the disease over a long period to show an objective picture. This second research group was labelled S2 research group. This thesis purpose was to show, based on the results of this conducted research, how CF patients assess their lives in terms of the fulfilment of their social needs and perceive the quality of life. The results clearly showed their situation does not allow them to live and enjoy their lives fully. The disease limitations proved to be present in many areas of life, including school, work, partnership. The CF patients often encounter other people's misconception too, thanks to generally low knowledge about Cystic Fibrosis.
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Molecular identification, typing and adaptation of Achromobacter spp. during the course of chronic infection
Učíková, Barbora ; Dřevínek, Pavel (advisor) ; Nemec, Alexandr (referee)
Achromobacter spp. is an emerging pathogen, especially in chronic respiratory infections in patients with cystic fibrosis. MALDI-TOF mass spectrometry provides reliable identification only at the genus level. The nrdA gene sequence is used for species identification of representatives. Clonality studies using multilocus sequence typing can determine whether a patient is still infected with the same clone or whether reinfection with a new strain occurs over time. Time-collected isolates of Achromobacter spp. from patients with cystic fibrosis were included in our study. Patients were divided into three groups according to the time interval between collections. In the first group, the external interval between collections was approximately 10 years, in the second group 7 to 12 months, and the remaining group consisted of single isolates. In the course of chronic infection, Achromobacter spp. adapt to the exposed antibiotics and to the host. Isolates sampled at an interval of 10 years showed a higher number of mutations than isolates with a sampling interval of up to one year. During chronic infection, loss of motility occurs, which we demonstrated phenotypically at the level of motility, reduction in flagella number and changes in flagellar genes. Increased resistance was observed in some isolates by...
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