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Major obstetric complications in women with inherited thrombophilia in comparison to the control group of women
Pechrová, Viktorie ; Koucký, Michal (advisor) ; Čábela, Radek (referee)
Leiden mutation and mutation of the gen for prothrombin are classified as hereditary thrombophilia affecting external cascade's hemocoagulation factors. The higher incidence is in the Europoid. We marked those disorders not only as risk factors for thromboembolism but as risk factors for obstetrics complications as well. This bachelor thesis completes theoretical knowledge of Leiden mutation and mutation of the gen for prothrombin. Afterward, the thesis is focused on obstetrics complications that are associated with those thrombophilias. The analytical part of the thesis is devoted to the association of the mentioned mutations and the higher risk of recurrent pregnancy loss. Meaning that women who carry the such mutation are more likely to have the anamnesis of 2 or more miscarriages compared to women without thrombophilia. First, the hypothesis was set that the women with thrombophilia are going to have more frequent recurrent pregnancy loss compared to the control group without thrombophilia. To verify the hypothesis a retrospective check of the databases was made. The databases were from The Institute of Medical Biochemistry and Laboratory Diagnostics of the General University Hospital and of the First Faculty of Medicine of Charles University, where the group with thrombophilia was taken. The...
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Vztah Leidenské mutace a rezistence na aktivovaný protein C
ZEMANOVÁ, Vendula
This thesis was about the relationship of the Factor V Leiden mutation and activated protein C resistance. I looked up patients with Leiden mutation and activated protein C resistance. I monitored the frequency of thromboembolism and miscarriages in the personal and family case history of patients. Subsequently, I looked up if other risk factors which affect clinical manifestations in patients with this mutation can be found.
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Vliv vrozených hyperkoagulačních stavů na hladinu D-d se zaměřením na gravidní ženy
ŠTÍCHOVÁ, Zuzana
The thesis analyses the female patients' data from Clinical hematology department in České Budějovice hospital from year 2014 to 2015 and tries to statistically confirm connection between D-dimer level and hypercoagulable states described in previous bachelor thesis. D-dimer assay is due to negative predictive value and high sensitivity an initial laboratory test to rule out tromboembolic disease. However, it has low specificity. The elevated level of D-dimer is observed in conditions like infection, trauma, acute cancer, recent surgery or pregnancy and last studies showed increased D-dimer level even in combination with inherited hypercoagulable states. Thus, it is necessary to analyse the level of D-dimer in pregnant women related to specific hypercoagulable states. Moreover, the thesis analyses the influence of other factors like anticoagulation therapy on D-dimer level and tries to find connection between D-dimer level and pregnancy associated complication, birth weight or a type of delivery.
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Different approaches to genetic testing of Leiden mutation
HÁJKOVÁ, Markéta
This thesis is about various approaches to genetical testing of Factor V Leiden. Factor V Leiden is currently one of the mostly occured hereditary causes of thrombosis. It's examination is one of the mostly required among the thrombophilic mutations. Thrombophilic conditions are serious health complications when most oftenly deep venous trombosis occurs, which means formation of blood clot in deep vein system of legs. This condition may cause health complications especialy during gravidity, but it may have serious consequences even for healthy person. If examination for Factor V Leiden is recommended by medical specialist then it is paid from the health insurance otherwise it is payed by person who requests the examination. Purpose of theoretical part of the thesis is to offer information about physiology of hemostasis and to understand mechanism of this system, further is about hereditary of Factor V Leiden and associated hazards and about rules of indication of genetic examination of this disorder. There is also description of risks related with use of hormonal anticonception and formation of thrombophilic conditions. And lastly this thesis concernes about various genetical methods which are useable for detection of factor V Leiden. Practical part consists of procedures of genetical methods and obtained results. Used methods were RFLP-PCR, real-time PCR and reverse hybridization on the stripes. Part of the results is statistical processing of different concentrations of DNA obtained by isolation from peripheral blood or from buccal swab and statistical overview of factor V Leiden identifications throughout the years in laboratories of company GENLABS s.r.o. Carriers of this mutation have increased risk of occurrence of thrombosis which can cause serious health conditions like pulmonary embolism or myocardial infarction. Indivinduals with such mutation can be heterozygotes aswell as homozygotes. Heterozygotes have five to ten times higher chance of mutation occurance then healthy person but homozygotes have this chance eighty to one hundred times higher. In human population factor V Leiden is spread unequally. In white population is estimated occurrence around 15% on the other hand occurrence on humans with African or Asian descent is very rare.
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Problems of Nursing Care of Patients with Leiden Mutation and Prevent Complikations
BROMOVÁ, Jana
Factor V Leiden mutation is a hereditary disorder of the hemostatic mechanism, which may lead to an increased occurrence of trombones in the blood-vessel tree. This disorder is classified among hypercoagulation conditions. It is one of the most frequent inborn disorders of blood coagulation associated with venous thromboembolism. The objective of the present Bachelor Thesis is to determine if nurses of surgical branches have knowledge of the above disorder and complications there of. Further, another objective of this Bachelor Thesis is to discover if education of nurses affects their knowledge of the disorder. The final objective is to ascertain if patients have cognizance of their disease and know how to prevent complications. Hypotheses and research questions have been stipulated in relation to the above-mentioned objectives. H1: Nurses with a longer work experience in surgical branches have more information of Leiden mutation and prevention of complications related to this disorder than nurses with a shorter work experience. H2: Nurses with a higher-level education in surgical branches have more information of Leiden mutation and prevention of complications related to this disorder than nurses with a lower-level education. RQ1: Are patients informed of occurrence of complications and prevention of an acute breakout of the disorder? RQ2: Do nurses provide patients with informationof regimen measures related to this disease? RQ3: Have any complications occurred during hospitalization in relation to Leiden mutation? The empirical part of the Bachelor Thesis consists of two sections.The first section comprises a quantitative research survey. The research was conducted in form of an anonymous non-standardized questionnaire for nurses of surgical branchesin Nemocnice České Budějovice, a.s. [Hospital České Budějovice, joint-stock company] and Nemocnice Prachatice, a.s. [Hospital Prachatice, joint-stock company]. The questionnaire contained 20 questions, divided into closed, semi-closed and open questions. Results were processed in the computer programme Microsoft Excel and the data acquired were used for parametric statistical analysis. The results are presented in graphs. The other section of the empirical part contains a qualitative research survey. The research was carried out with five respondents, in form of a semistandardized interview, with 20 questions prepared in advance, and these questions were in turn completed according to replies given by the respondents. The interviews were recorded in a written in a record sheet. Data obtained from the interviews were processed by coding and a subsequent categorization of data. The categorization was done on the basis of internal similarity of codes.The author views the problems of nursing care of patients with Leiden mutation mainly in connection with complications that might occur. These complications involve deep venous thrombosis and pulmonary embolism.This Bachelor Thesis attempts at pointing out these problems and bringing this disease into more widespread awareness among nursing personnel.
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Resistance to activated protein C
BLATNÍKOVÁ, Kateřina
Thrombophilia is a congenital or acquired disease which is characterized by an increase in the risk of occurrence of venous thrombosis. Compared to non-carrier population this life-threatening complication more frequentli occurs in trombophilia risk carriers especially in a period also know as additive risk for instance limb immobilization after an injury, gravidity, the use of hormonal contraceptive pills, surgery, diabetes, which are characterized by immobilization an long distance travel by plane. Currently there are common pharmaceuticals available that can reduce the risk of thrombosis in the additive periods. However it is necessary of the risk carrier to be aware, of its presence and to avoid or at least minimize the risk. For this reason screening of people at high risk plays a key role. There are many kinds of examinations for these purposes. The most common testing procedures used in practice are functional examinations and molecular-genetic tests which are the topic of my bachelor degree thesis, as well as a comparison of the methods and the results we get. The methodological part of my bachelor degree thesis was completed in the clinical laboratory of the Regional Hospital in Kladno, coagulation ward. The blood samples were obtained during routine operation of the laboratory where I am employed. I searched samples among newcomer patients that were found to be resistant against activated protein C and consequently positive for the Leiden mutation too, based on preventive examinations and among patients observed for their family anamneses University Hospital in Prague. The measured data were in inserted in a table together with the results obtained by PCR method and then were compared to each other. My bachelor degree thesis describes functional examinations carried out by the clinical laboratory in the Regional Hospital in Kladno. A preanalytic phase, a methody part, a desription of analyzer Sysmex CA 1500 made by Siemens, which operates in a princip based on a optical method, where a red light goes through a cell with reagents and so indicates a change at light scattering. Next are desribed reagents which were used include their starage neither., the reagents used including the process of their preparation before use and storage. All of the foregoing procedures have been carried out in line with standard operation procedures (SOPs) which are used in the clinical laboratory in Kladno hospital and which have been fully authorized and audited. The method of examination by PCR was described based on my consultations with MUDr. Vaclav Maťoška and based on my short term internship in the laboratory of molecular diagnostics in the Hospital Na Homolce, and my co-operation with Ing. Jaroslava Hájková from the Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital in Prague. This proces consists in three steps and in desired number of cycles. Each of these steps take place at a certain temperature's conditions. For this purpose is used a so-called thermocycler that is a machine what is designed in a way to be able change a temperature in the desired time intervals and it is working exactly in these following steps: Denaturation - During this step there is a DNA graduadely heated up to a temperature over 92 C, usual 94-95C, when the hydrogen bonds, which connected complementary strands, break down. A hybridisation - there are primers and their hybridisations annealing to the complementary DNA strands. This is performed on lowered temperature conditions to interval in range 50-65 C. A elongation ( a extention, a synthetic phase) there is a need a temperature about 65-75C for new DNA strands syntheses, depending on used DNA polymerase.
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Thrombophile gene mutations and their health social complications
ŠTORKOVÁ, Marie
The objective of this thesis was to describe trombophilic gene mutations from the health and social viewpoint and to find out if these innate trombophilias may also cause psychosocial complications. The thesis consists of two sections: The theoretical section deals with the genetic nature of trombophilic gene mutations, their health and social complications. Practical information for life with trombophilias is also given. The practical section of the thesis was carried out by means of quantitative research, using the technique of anonymous questionnaires. The questionnaire consisted of 24 questions. 3 questions were stratificational. 21 questions were related to the issue concerned {--} trombophilic gene mutation complications, 7 questions of which were focused on health complications, 6 on psychosocial complications and 8 questions were aimed at finding the respondents´ awareness on their diagnosis and sources of information. The questions number 8 {--} 15 were addressed only to women. The chosen set of respondents were persons addressed through web servers Baby-café.cz and Doktorka.cz (97%) and clients of the Association of Samaritans of the Czech Republic Rescue Service Prague {--} west (3%). The total number of respondents was 86 (100%), 77 of whom were women (90%) and 9 (10%) men. The questionnaires were evaluated and the data were turned into graphs. The hypothesis saying: ``Trombophilic gene mutation complications are not only connected with physical health, but they are also psychosocial{\crqq} was confirmed according to the research results. The results show the need of better awareness and point out to the importance of possible complications prevention. The informative website made up on the basis of this research - http://www.trombofilie.estranky.cz/ - should contribute to better awareness and prevention of innate trombophilias complications.
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