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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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Study of glycocluster prophylaxis on bacterium adherence model
Áčová, Andrea ; Hodek, Petr (advisor) ; Kubíčková, Božena (referee)
Cystic fibrosis (CF), as autosomal-recessive inherited disease caused by mutation in CFTR gene, induces an ion channel disorder which triggers big amount of CF patients' health problems. The gravest are complications associated with the respiratory system. Accumulation of thick mucus and altered glycosylation in lung lead to increased adherence of bacterial cells, mainly Pseudomonas aeruginosa (PA) and Burkholderia cepacia complex, to lung epithelial cells of CF patients. The presented thesis, focusing on one of the virulence factors of PA, the PA-IIL lectin, studies the adherence of the PA control strain (PAK; ST 1763) under the influence of anti-PA-IIL chicken IgY antibodies and multivalent glycoconjugates based on fucose, to lung epithelial cells collected from healthy person (NuLi-1) and CF patient (CuFi-1). Before the adherence testing, the presence of PA-IIL in PAK culture was checked by "Western Blotting" followed by immunodetection. For quantitative evaluation of the adherence testing, both lung epithelial and bacterial cells were first fluorescently labeled with PKH dyes. The results of spectrofluorimetric measurement after the adherence testing were also compared to microscopic observation of PAK adherence. Different fractions of chicken anti-PA-IIL antibodies from egg yolks showed...
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Metabolism of benzo [a] pyrene by the lung cells of a patient with cystic fibrosis
Skořepová, Adéla ; Indra, Radek (advisor) ; Wilhelm, Marek (referee)
Cancer is the most common disease, killing several million people worldwide each year. There are many reasons for its occurrence. The most common causes of cancer include alcohol and tobacco use. Nowadays, there is also a higher incidence of physical and chemical carcinogens that interfere with the environment. Poor eating habits and lack of exercise are also influential. Nowadays, thanks to good medical care, improved diagnostics and, above all, a number of existing vaccines, cancer is partly preventable. In the future, it is safe to say that cancer will increase. According to the IARC, over 19.3 million new cases will be diagnosed worldwide in 2020. By 2040, it is estimated that there will be another 10.9 million. Cystic fibrosis is an autosomal recessive inherited disease that affects 1 in 2500 newborns in the population. The main cause is impaired function of the CFTR protein as a transmembrane regulator of cystic fibrosis, leading to impaired fluid transport and impermeability of chloride ions, with a combination of excessive sodium absorption, leading to reduced water content in the periciliary fluid. People with cystic fibrosis are much more susceptible to colon cancer, especially those who have undergone lung transplantation. In recent years, the treatment of patients with cystic fibrosis...
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Current approaches to cystic fibrosis therapy
Chmelíková, Barbora ; Kubíčková, Božena (advisor) ; Marková, Vendula (referee)
This bachelor thesis is focused on possible herapeutic methods for cystic fibrosis with main focus on modulators. The individual modulators are described in terms of their function, their differences and application possibilities. The thesis are also discuss other methods of treatment of cystic fibrosis, both for the respiratory tract and gastrointestinal tract. The thesis itself will be divided into three complementary parts. The first theoretical part defines the basic concepts of terms related to cystic fibrosis, the second follow-up practical part is focused on the comparison of the various methods of treatment of cystic fibrosis and the third part in the form of detailed analysis of the individual modulators. As for the methodology of the work, a method of literature search using secondary verified sources will be used. Keywords: cysticfibrosis, gene therapy, therapy, modulator, potentiator, correctors
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Impact of Immunonutrition on the Patients With Cystic Fibrosis
Hloch, Ondřej ; Charvát, Jiří (advisor) ; Kohout, Pavel (referee) ; Rušavý, Zdeněk (referee)
The impact of immunonutrition in patiens with cystic fibrosis Abstract The aim of the study was to evaluate the application of immunonutrition in adults with cystic fibrosis (CF) and malnutrition, who have been receiving enteral nutrition in the form of standard sipping for at least a year. In 30 adult patients, immunonutrice (Impact) was given for 8 weeks. After 8 weeks, patients returned to standard nutritional support. The application of immunonutrition led to a significant reduction in systolic blood pressure and heart rate, to an increase in glomerular filtration and significant changes in the plasma aminoacidogram. Serum amyloid-A (SAA) levels decreased significantly and increased again after the intervention. However, immunonutrition administration was associated with an increase in serum malonyldialdehyde, a decrease in serum glutathione peroxidase and selenium. Thus, administration of immunonutrition led to an increase in oxidative stress, but almost all values remained within physiological limits. At 6-year follow-up, the long- term prognosis in the multivariate analysis depended only on baseline FEV1 and the degree of pulmonary involvement, respectively. The frequency and duration of subsequent hospitalizations and long-term prognosis were significantly associated with plasma fibrinogen levels....
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Detection of early pathophysiological changes of breathing in children with chronic respiratory disease
Koucký, Václav ; Pohunek, Petr (advisor) ; Rybníček, Ondřej (referee) ; Chlumský, Jan (referee)
Detection of early pathophysiological changes of breathing in children with chronic respiratory disease MD. Vaclav Koucky - Ph.D. thesis Abstract Introduction: Currently, there are different methods for infant pulmonary function testing (iPFT) and morphological assessment of microscopic changes in endobronchial biopsy samples (EBB). In research setting, they allow detection of early pathophysiological changes of breathing in small children with chronic respiratory disease, respectively in risk of its development. Their clinical significance, however, is not fully acknowledged. The aim of this thesis is to evaluate the safety, feasibility and clinical significance of iPFT and EBB in infants younger than 2 years of age. In addition, the relationship between functional and morphological changes of respiratory tract and the function of peripheral chemoreceptors was studied in selected patients' subgroups. Methods: Fifty-five infants with cystic fibrosis (CF), 35 physician-confirmed recurrent wheezers (AB), 9 infants with congenital diaphragmatic hernia, 7 with interstitial lung disease (chILD) and 3 with primary ciliary dyskinesia (PCD) were enrolled. All infants underwent iPFT and relevant clinical history data were recorded. Based on patients' age, CF group was divided into CFmalí (< 6 months) and CFvelcí (>...
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