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Is it possible in clinical practice to perform selection of unrelated donors based on KIR genotypes for AML patients?
FRYČOVÁ, Michaela
Acute myeloid leukemia (AML) is an aggressive malignant disease, during which is for most of the patients only possible treatment the curative allogeneic stem cell transplantation. Besides reaction of the graft against the host is a fundamental limiting factor of the successful transplantation the relapse of the disease. According to several recent published studies, the results of transplantation in patients with AML may be influenced except the HLA genes by others so-called non - HLA genes. Especially there is mounting evidence influence of the donors KIR genes (Killer -cell Immunoglobulin - like receptors) in protection against the relapse after transplantation. HLA and KIR genes are coded on different chromosomes (HLA- sixth chromosome and KIR chromosome 19), therefore are segregated independently and HLA identical donors with recipients usually have different compositions of the KIR genes. Cooley et al. (2010) demonstrated that the specific motifs composition of centromeric and telomeric B haplotypes of KIR genes helps to protect against relapse and increases the chances of complete cure AML. In cases where there are multiple HLA identical unrelated donors (UD) then logically the composition KIR genes by the individual donor could be a criterion in selecting the most appropriate donor, therefore, the one with the greatest potential to protect over the relapse . Based on this study and other data the genetic screening of KIR was started with potential donors, if it was possible to choose from several 10/10 or 10/09 HLA identical UD for the patient. Genotyping was performed by PCR-SSP methodology using commercially available kits. It was performed gene classification 160 preferably identical HLA donors for 55 selected patients with AML. The presence of KIR haplotypes A and B as well as their combinations was determined from the type and number of the KIR genes. All genotypes were entered into the calculator, which allows you to enter up to five potential donors and obtain their assigned into one of three categories according to content KIR B. Groups , "neutral" , "better" , "best" , refer to the appropriate protection against relapse. KIR gene classification in the search for donors revealed 43 donors with AA haplotypes, 90 donors with AB haplotypes and 27 donors with BB haplotypes . After assigning state of the presence KIR B was discovered 107 " neutral " donors , 35 "better " donors and the 18 "best " donors . At 40 (~ 73 %) patients were available donors with the different states of the presence of KIR B. These patients represent a group of patients where the selection criterion of the presence B KIR gene at the donor could be used. We confirmed that the additional selection of HLA-matched unrelated donor on the basis of the content B of KIR genes is feasible. Selection such donor for transplantation may improve the outcome of patients with AML.
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Card of Cryptosporidium infections by humans and animals
BLÁHOVEC, Ondřej
The representatives of the Cryptosporidium genus are one of the causes of gastrointestinal tract diseases in humans and animals. In animals the host may even be a respiratory apparatus. The disease is called cryptosproridiosis. In majority of cases this infection can bypass without any major problems, but in immunosuppressed individuals it can cause serious health problems. Cryptosporidium has a monoxenous development cycle, which basically means that the entire development takes place in a single host. Exogenous stage is represented by oocysts, which are in case of a gastrointestinal disease excreted in faeces. In case of a respiratory disease the oocysts make they way out via respiratory and nasal secretions. This leads to contamination of the environment or water. In general, it is expected that Cryptosporidium isolates, which are present in one class of vertebrates, are not infectious to a non-specific host from other classes. It is also expected that cryptosporidia have low host specificity. But this does not exclude that some kinds have gradually extended its specificity to more species. It is also apparent that cryptosporidium infections are common in animals that inhabit the external environment, so even a human can be endangered by this zoonosis, although the incidence in the Czech Republic is low. The reason for the low numbers may as well be that parasitological examination is not performed very often, so the estimated prevalence in the population is probably much higher. Therefore to reveal the originator of this disease it would be appropriate to perform a parasitological examination in persons who are in contact with animals, this way the cryptosporidium infection would be excluded or proven.
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Narcolepsy and other seizure disorders
TONDLOVÁ, Andrea
The thesis deals with the issue of seizure disorders from the perspective of special neurology. In terms of content, it is focuses on two major areas. The first part is theoretical in nature and has descriptions of the individual disorders, their clinical manifestations, diagnoses and current treatments. It is focused on the following seizure disorder group with regard to one of the objectives of the work: epilepsy, tetany, Meniere's syndrome, migraine and more specifically narcolepsy. These findings are supplemented with information on current knowledge regarding the treatment and diagnoses of these diseases, which make the lives of thus disables people very difficult and prevent them from leading their lives the way they could if they were in full health. The aim of the work is not just a theoretical description of the currently available knowledge of these diseases from literature, but also a practical confrontation thereof from experiences, which in this case result from the true stories of people suffering from seizure disorders. A specific seizure disorder has been selected for this second part of my thesis, which needs to be talked about more in order to become better known. It is a disorder that is interchangeable with regard to its symptoms, which are similar to other disorders, and it is difficult to diagnose or is only diagnosed after an inconveniently long time - i.e. Narcolepsy . The thesis therefore deals with the issue of narcolepsy in most detail, with regard to the practical focus in the next section, where in addition to aforementioned basic knowledge, the author describes the activities and the importance of sleep laboratories and centres as institutions involved in treatment. In order to penetrate into the issue of this disorder even more deeply, she adds the aforementioned anonymous stories of people affected in this way. This part is also complemented with illustrative images of the sleep laboratory and the stories of these people as a better visual complement of the thesis for the reader. A descriptive analysis (comparison) of each symptom was chosen as a comparative method of the aforementioned thesis objective (to compare the theoretically given symptoms of narcolepsy with the symptoms of individuals suffering from this disease), in which the goal was to choose the common symptoms these people which make their lives difficult and compare these data with information (symptoms of narcolepsy) found in contemporary literature. In conclusion, we visit the most important information from scientific literature, the views of the professional community on the current research and studies on narcolepsy, i.e. the specifically examined causal links of applying the Pandemrix vaccine (against swine flu) and narcolepsy and a summary of the results of other studies investigating the etiology of this disease. The aim of this section is to present the reader with, and identify, the current developments in narcolepsy research. An evaluation of the historical development of interest in sleep disorders and an evaluation of the conclusions drawn by comparing symptoms specified in professional literature on narcolepsy with actual symptoms of people suffering from this disease are also included. The aim is to provide the reader with a bio-psycho-social view of a person with this disease, which is not always emphatically discussed in every piece of professional literature. The result of the entire thesis is a summary of the current state of knowledge of these diseases and a reflection on the research of the current possible causes of narcolepsy. It continues to compare the theoretical background of the narcolepsy disorder with the experience of living with this disease, including stories of selectively chosen individuals suffering from narcolepsy.
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Pick´s disease and the specifics of the nursing care of a patient with this disease
KOPKAŠOVÁ, Lenka
Pick's disease is a degenerative-atrophic process that primarily affects the frontal and temporal lobes of the brain. Besides Alzheimer's disease, it is a lesser known form of dementia which affects people of younger age. Although the exact range of Pick's disease occurrence varies in the literature, the average reported age is between 50-60 years. The disease can change eating habits, cause emotional swings, inappropriate behaviour and sloppy appearance of the patients. The behaviour to others is often selfish, the patients are unable to listen to others and ignore their surroundings. Pick's disease is also characterized by inappropriate sexual behaviour. Globally, the number of dementia patients is still growing and according to expert guesses the increase will continue. Nursing care for patients with dementia is therefore becoming a very actual topic as dementia is called a quiet epidemic of our century. Nurses in their departments quite frequently encounter patients suffering from dementia of various origins at different stages of disability and the staff at healthcare facilities often regard these people as a burden. The aim of this thesis, which is called Pick's Disease and Specifics of Nursing Care for Patients with this Disease, is, based on the theoretical knowledge, to map definitions and diagnosis of Pick's disease, to define the needs of such a patient, and to list the most common problems in the nursing care. It focuses on people with dementia within medical facilities. For proper understanding of the problem, the thesis starts with the anatomy and physiology of the brain and the description of cognitive functions which are affected by the dementia syndrome and the definition of dementia. Based on the studied literature, dementia is divided according to various criteria. It has been found out that dividing dementia is not entirely uniform, but the essential facts and overall opinions of the authors do not diverge. Pick's disease belongs to a group of frontotemporal dementia and its position in this group has changed over time, as it is recorded in the literature. The thesis includes recommendations resulting from the studied literature in the approach to patients with dementia and emphasizes personal communication with the patients and empathetic and humane approach. Although medicine cannot prevent dementia, an early diagnosis of a specific type of dementia and correctly targeted treatment can increase the quality of life not only of the patients but also of their families. I have chosen this topic because I find it very current and interesting. During my nursing practice at the Surgery Department and Aftercare Department, I have met patients suffering from dementia and I did not know how to properly and efficiently communicate with them. For the theoretical part of my work, the methods of explanation, synthesis and induction on the basis of Czech and foreign information sources have been used. The most frequently quoted Czech authors in my thesis are doc. MD. Roman Jirák, PhD., the head of the center for diagnosis and therapy of Alzheimer's disease at the psychiatric clinic of the General University Hospital in Prague, the 1st Medical Faculty of Charles University. This thesis can serve as an informational and educational source both for nurses and the general public who may experience the disease within their families. It would be considered a great success if it helped nurses or family members to diagnose Pick's disease or other dementia at an early stage.
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Appaloosa breeding and their utilization
Zuzjaková, Eva ; Neumann, Cyril (advisor) ; Starostová, Lucie (referee)
This bachelor thesis is a summary of the basic information about breeding and utilization of appaloosa. A dominant characteristic of appaloosa is an attractive color coat pattern, which is caused through a set of genes called Leopard Complex (Lp). That is the reason, why in this thesis, at first, the history of presence of the Lp in genus Equus takes place. The presence of Lp can be found already in many cave paintings of prehistoric horses. During domestication, the coat pattern became important. The horses of the same color coat pattern, which have today appaloosa, are depicted in the Celts, Scythians and Etruscans tombs, as well as in murals of Chinese and Egyptian cultures. Significant breeding of the spotted horses are also documented in the Ferghana Valley in eastern Uzbekistan. In Europe at 16th century horses were expanded and a lot of them have spotted coat pattern. Then the Spanish settlers imported these horses to the America, where Nez Perce Indian tribe bred horses, which we know today as Appaloosa.
Furthermore, in this thesis the Appaloosa breed organization, which belongs complete to Appaloosa Horse club of America, is described. The breeding standard and characteristics, which are color coat pattern, mottled skin, visible white sclera and striped hooves are inducted. Seven various types of coat pattern and tree types of registration are also described.
The major problems in the appaloosa breed are inherited diseases. In this thesis the most serious five of them are identified. It is CSNB, congenital stationary night blindnes associated with a homozygous variant of LP gene. HYPP, hyperkalaemic periodic paralysis, which causes muscle spasm of affected horses. This disease was obtained from quarter horses. HERDA - Hereditary Equine Regional Dermal Asthenia which causes irreversible damage to exposed skin. Another serious disease is PSSM, polysaccharide storage myopathy, which is one of many myopathy occuring in horses. The latter disease is lethal GBED. Affected foals lack the enzyme GBE which is necessary for the synthesis and storage of glycogen. In spite of the improving precautions, these diseases have not been fully eliminated from breeding.
Further, there are given the possibilities of using Appaloosa horses in sports, hobby and ranch works. The system of shows and their ratings is described as well.
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Quality of life in patients with coronary artery disease after percutaneous coronary intervention treatment
Melkovičová, Stanislava ; Štefančíková, Mariana (advisor) ; Votroubková, Michaela (referee) ; Hodač, Martin (referee)
Key words: quality of life, assessment of quality of life, coronary artery disease, percutaneous coronary intervention Bachelor's thesis is focused on assessment of quality of life in 50 patients with chronic coronary artery disease after receiving percutaneous coronary intervention treatment. Risk factors, signs, diagnostic techniques, treatment and prevention were mentioned. Practical part of the thesis is based on questionnaire survey. The objectives are to evaluate the quality of life in patients with chronic coronary artery disease before treatment and assess the effect of treatment on further quality of life in these patients. Patients' compliance of preventive interventions and important differencies between both sexes were measured as well.
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Cytomegalovirus infection after kidney transplantation
Reischig, Tomáš ; Třeška, Vladislav (advisor) ; Viklický, Ondřej (referee) ; Zadražil, Josef (referee) ; Pazdiora, Petr (referee)
1 SUMMARY Cytomegalovirus (CMV) disease is a common infectious complication in patients after solid organ transplantation. The last decade witnessed major advances in CMV disease prevention. Use of universal prophylaxis or preemptive therapy resulted in a decrease in the incidence of CMV disease from 20-60% to 5-20%. However, the efficacy of preventive approaches in terms of indirect effects of CMV occurrence is problematic. Association with allograft rejection belongs to well documented and clinically extremely important indirect effects of CMV with a prolonged adverse impact on graft survival. Potential mechanisms include overexpression of major histocompatibility complex molecules, growth factors and cytokines, and upregulation of adhesion molecules. A number of questions remain to be answered in evaluating CMV as a risk factor for acute rejection. While CMV disease is associated with an increased incidence of acute rejection, data regarding the role of asymptomatic CMV viremia are controversial. In our research we evaluated the role of CMV in pathogenesis of allograft rejection in the era of modern immunosuppression and CMV prophylaxis as well as optimal preventive strategy to minimize impact of CMV. In the first trial, renal transplant (RTx) recipients were followed prospectively for 12 months to...
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Nursing care of patients with systemic connective tissue disease - lupus erythematosus
KAAS, Jiří
Lupus erythematosus is a chronic disease that is classified as a systemic or diffuse connective tissue disease. This is an autoimmune inflammatory disease which may affect virtually any organ of the human body. The nature of the disease lies in the increased activity of B cells that produce organ-nonspecific autoantibodies reacting with various structures of cell nuclei. The most frequently affected organs are the joints, skin, heart, kidneys and the central nervous system. The disease is accompanied by a number of clinical manifestations such as fatigue, musculoskeletal pain, increased body temperature and other symptoms. For the nurse standing at the bedside of a patient with this disease, the knowledge of different manifestations of the disease and the readiness to provide highly individualized nursing care is important. The aim of this thesis is to determine the specifics of nursing care and the most frequent nursing problems of patients with systemic lupus erythematosus. The empiric part of the thesis was conducted through the qualitative research. The data collection technique was a semi-structured interview, which was practically carried out with ten patients from the South Bohemian and Pilsen regions. Interviews with individual respondents were integrated into case studies. The most interesting data were represented in the form of categorized tables. The results of the research have proved a wide spectrum of patients´ problems and have shown that the disease does not affect only the patients´ physical aspects, but it significantly affects both the psychic and social aspects. Based on the results of the work, a booklet that can be used as an educational or informational material for students of medical disciplines and also for qualified nurses, was created. The booklet is supposed to provide a comprehensive view on patients suffering from this disease.
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