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Trombophilic states during pregnancy
Košatová, Andrea ; Ehler, Edvard (advisor) ; Pavlasová, Lenka (referee)
The aim of this thesis is to summarize the available data concerning the influence of trombophilic states on the process of pregnancy and to present the results obtained by investigating the prevalence of congenital trombophilia in infertile women and its influence on the success rate of assisted reproduction. It is aimed at those interested in the problematics - be it professionals, medical students or women planning pregnancy or cannot get pregnant. The theoretical part draws data from literature written by leading Czech experts in the field and from scientific journals, included are also foreign sources. The practical part was executed with the kind permission of the PRONATAL s.r.o. centre for assisted reproduction. Key words: venous thromboembolism, trombophilia, trombophylaxis, gravidity, mutation, screening
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Trombophilic states during pregnancy
Košatová, Andrea ; Ehler, Edvard (advisor) ; Pavlasová, Lenka (referee)
The aim of this thesis is to summarize the available data concerning the influence of trombophilic states on the process of pregnancy and to present the results obtained by investigating the prevalence of congenital trombophilia in infertile women and its influence on the success rate of assisted reproduction. It is aimed at those interested in the problematics - be it professionals, medical students or women planning pregnancy or cannot get pregnant. The theoretical part draws data from literature written by leading Czech experts in the field and from scientific journals, included are also foreign sources. The practical part was executed with the kind permission of the PRONATAL s.r.o. centre for assisted reproduction. Key words: venous thromboembolism, trombophilia, trombophylaxis, gravidity, mutation, screening
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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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