Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene (CF transmembrane conductance regulator). These mutations result in absent or defective CFTR chloride channel function. The susceptibility to bacterial respiratory infections due to the accumulation of thickened mucus and altered glycosylation in lungs is typical for this disease. Bacteria Pseudomonas aeruginosa (PA) is a major cause of these infections. Among other virulent factors, the pathogenicity of these bacteria is caused by fucose-specific PA-IIL lectin which plays a role as an adhesin. The effect of anti-PA-IIL egg yolk antibodies and multivalent fucose-based PA-IIL inhibitors on PA adherence to lung epithelial cells was studied in this work. Chicken antibodies were isolated from egg yolks before and after immunization with antigen PA-IIL. Specific anti-PA-IIL antibodies were obtained by affinity chromatography using a column with an immobilized PA-IIL. Reactivity of IgY was verified by ELISA. The presence of PA-IIL in the bacterial culture of Pseudomonas aeruginosa (PAK, ST 1763) and the ability of antibodies to recognize this bacterial lectin were verified by Western blotting followed by immunodetection. Appropriate culture conditions have also been found for the expression of this lectin. The...

Home and outpatient nursing care about children suffering cystic fibrosis Cystic fibrosis is a serious autosomally recessive disease in European population. The disease affects lungs and the digestive system. Complex medical procedures have started to develop recently which improve the prognosis. Surrounding factors are also very important age, infection, nutrition, quality of medical and nursing care and above all, quality of home nursing care. CF is treatable today, nevertheless even with maximum care, using all available methods and processes, which modern medicine offers, it is unfortunately not curable. The task for modern medicine is mainly to reduce problems caused by this disease and to prevent worsening the problems. Care about breathing tubes is very important, as well as good nutrition, repression of infection and inflammation and treating complications. Nursing care about a child suffering cystic fibrosis is a topic including many problems it includes medicine, mental and social aspects. Parents and a team of specialists from an ambulance of cystic fibrosis are very important and their role of taking care about a diseased child is irreplaceable. The specialists, using their professional knowledge, help the parents to take care about the child well and at the same time react positively to the child´s needs. Their role of educating the parents and whole family is also irreplaceable. The mother or parents need someone to demonstrate specialized care of the child and to be able to try it themselves. They need support. In case the mother or parents and medical staff manage to cooperate well, we can reach requested results and satisfaction can be found on both sides.

This diploma thesis describes the issue of rare diseases in terms of their essence and the situation in the Czech Republic nowadays. As a disease model was chosen cystic fibrosis. The main goal of this work is to quantify the cost of treatment of cystic fibrosis for three consecutive years and to analyse their structure in the cohorts of patients.

Vitamin K belongs to the family of fat-soluble vitamins, which is not determinated in clinical laboratories. It is a cofactor necessary for posttranslational γ-carboxylation of glutamyl residues in selected proteins such as the osteocalcin, and procoagulation factors II, VII, IX, X. Vitamin K deficient individuals appear to have more undercarboxylated proteins, which are functionally defective. Lack of this vitamin has been associated with risk of developing osteoporosis and cardiovascular diseases. The aim of this work was to develop and validate the HPLC method and the LC-MS/MS method for determination of three vitamin K's forms - vitamin K1, MK-4 and MK-7 in serum. After successful validation of both methods, patient samples and healthy population samples were measured. There were measured 350 patient samples by HPLC method. These samples were divided into two groups - patients with diagnostic of osteoporosis and patients without osteoporosis. We measured 946 samples by LC-MS/MS method. Samples were divided into groups: patients with osteoporosis, patients without osteoporosis, healthy population, patients with osteopenia and patients with cystic fibrosis. The reference range of vitamin K in healthy population was obtained by LC-MS/MS method. The next aim was to compare the effectiveness of...

The aim of this study was to evaluate the relationship of oxidative stress (OS) marker s in exhaled breath condensate (EBC) in adult patients with cystic fibrosis (CF) to the severity of lung disease, nutritional status and systemic antioxidants and inflammatory markers, as well as to short - and medium - term development of pulmonary function and nutritional status, and finally to assess the response to treatment with inhaled corticosteroids (ICS). Methods: CF patients were examined in a stable phase of the disease during routine outpatient controls. EBC was collected using E C oScreen device (J aeger) in CF patients and in control group members. Nitrites and nitrates and 8 - isoprostane were examined using liquid chromatography and competitive enzyme immunoanalysis, respectively, in EBC as OS markers. Demographic data including the dominant pathogen of airway colonization and ICS treatment were recorded in CF patients. Lung function tests, chest X-ray s, nutritional statuses and systemic antioxidants and inflammatory markers were also examined using standard methods. The values of OS markers in EBC in patients with CF were compared with the control group and correlated to clinical parameters. Lung function tests and nutritional status es in CF patients were examined in one, three and five years intervals...

Thesis objective: This thesis focuses on postural and respiratory functions in adult patients with cystic fibrosis. Furthermore, it studies observations of common features in body posture. Finally, this thesis tries to evaluate life quality of patients with cystic fibrosis despite the fact of small experimental sample group used. Methods: between the years 2013 and 2014, 10 adult patients with cystic fibrosis diagnosis who were hospitalized at the department of tuberculosis and respiratory diseases at Motol hospital were examined. All examined patients belonged to the age category 18 to 30 years old. Methods used in examining the patients included spirometry, spine dynamic test, posture assesment software and at the end of all examinations a standardized questionnaire was given to all patients to evaluate the life quality of patients with CF (questionnaire of cystic fibrosis). Results: a common manifestation was the barrel-shaped thorax that increases its size in the anteroposterior direction, which causes thoracic kyphosis, shoulder protraction, stiffness of the ribcage and hyperlordosis of the lumbar spine. Conclusion: Patients with cystic fibrosis are to be found in all ranges of pulmonary functions. The most common complaint is the cough that distinctly affects their life quality (sleep...

Title: Inclusion of a pupil with cystic fibrosis in physical education Objectives: The aim of this thesis was to point out through case studies the possibilities of inclusion of a pupil with cystic fibrosis in physical education and to investigate the influence of physical applied activities on pupil's physical abilities. Part of the research was also working with a girl in physical education classes. Methods: Due to the uniqueness of the disease, was chosen for this thesis the method of a case study of schoolgirl aged 12 with CF. Methods of data collection included interviews with pupil's mother, teacher and teaching assistant, questionnaires, observations and MABC-2 test set. Results: We found out, that the inclusion of a pupil with CF is possible, but it is necessary to have prepared alternative methods and modification of physical activities in order not to damage the health of the individual. The individual approach to the student in class also proved to be effective. The research shows that physical activities as a part of physical education have a positive effect on some motor skills of a pupil with CF. Keywords: integration, cystic fibrosis, joint education, primary school, physical activities

Cystic fibrosis (CF) is one of the relatively common inherited diseases caused by a mutation in the gene encoding for CFTR protein, which forms a chloride channel that significantly affects ion homeostasis and the associated fluid management of the cell. This disease mainly affects the respiratory and digestive systems, being the most life-threatening in the respiratory tract. Patients with CF suffer from frequent and recurrent respiratory infections that lead to the development of chronic inflammation and gradual destruction of lung tissue. These lung infections, which are caused mostly by the opportunistic pathogen Pseudomonas aeruginosa, are the most common cause of morbidity and mortality in these patients. At present, antibiotics are used in the treatment of Pseudomonas aeruginosa infections, but new methods of antibacterial therapy need to be found to overcome the development of resistance. In addition to active immunization of CF patients against Pseudomonas aeruginosa, their passive immunization with specific chicken antibodies directed against this pathogen offers promising possibilities. This dissertation thesis is aimed to verify the prophylactic potential of hen IgY antibodies against the virulence factor Pseudomonas aeruginosa - lectin PAIIL, and to further develop an experimental...

Cystic fibrosis (CF) is the most common autosomal recessive genetic disorder in Caucasians. Lower respiratory tract of CF patients is colonized by specific bacteria, often leading to chronic infection and lung tissue damage. In this thesis we characterized 338 isolates of S. aureus from 92 Czech CF patients isolated in 2011-2013. Using spa typing and PFGE we detected high clonal heterogenity of this collection with the exception of MRSA strains (resistant to oxacillin; 5% prevalence) which were clonally related. The prevalence of S. aureus MLSB resistance in our collection was high (69 %), which is a serious problem due to common usage of these antimicrobials in clinical practice. A half of the MLSB resistant strains lacked any known determinant of this resistance (ermA, ermC, ermT, msrA). Sequencing of the ribosomal genes revealed a high number of S. aureus strains carrying target site mutations resulting in MLSB resistance (37 %). This is new important information about the staphylococcal strains associated with chronic infections in Czech Republic. Focusing on mutability of analysed strains, we also detected several strains with point mutations or deletions in their mutator genes mutS a mutL. Hypermutability could be responsible for the high rate of ribosomal mutations and for the presence of...

The diploma thesis deals with the problem of global pelvic floor dysfunction in patients with cystic fibrosis. The theoretical part is devoted to individual components of dysfunction, thus urinary and fecal incontinence, prolapse and sexual issues. In particular, it focuses on the mechanism of formation and prevalence of individual components and also contains information on the musculoskeletal abnormalities most commonly found in patients with cystic fibrosis. There is also mentioned the impact of incontinence on the quality of life of patients. The experimental part describes a questionnaire survey, hypotheses derived from it and their results with comments. There is also statistical processing of the data and graphical representation of the results. Other important findings from the survey are also listed. The thesis follows the previous bachelor thesis and aims to draw attention to the given issue and break the wall of silence from the ranks of patients and health professionals.