|
|
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...
|
|
|
Impact of hereditary thrombophilia and acquired thrombophilia on incidence of postoperative venous thromboembolism.
Ulrych, Jan ; Kvasnička, Jan (advisor) ; Penka, Miroslav (referee) ; Lindner, Jaroslav (referee)
In Introduction, the author of this dissertation deals with postoperative venous thromboembolism (VTE), hereditary and acquired risk factors, prophylaxis regimens and recent recommendation of VTE prevention in surgery. In Practical part of this work the author assesses the risk of VTE in surgical patients according to risk assessment model. Genetic testing is carried out in all patients to determine the incidence of hereditary thrombophilia and coagulation markers are measured in 28-days postoperative period. Prevalence of VTE in 1-year postoperative period is observed. The results are analysed in group of patients with benign disease (hernia and gallstone disease) and group of patients with malignancy (colorectal cancer and pancreatic cancer) separately. The objective of this work is to determine the incidence of the most frequent thrombophilic mutations (factor V Leiden mutation and protrombin G20210A mutation) and assess the impact of hereditary thrombophilia on incidence of postoperative venous thromboembolism in general surgery. Validation of venous thrombosis risk assessment model recommended by Czech Society for Thrombosis and Hemostasis is further objective.
|
|
|
Impact of hereditary thrombophilia and acquired thrombophilia on incidence of postoperative venous thromboembolism.
Ulrych, Jan ; Kvasnička, Jan (advisor) ; Penka, Miroslav (referee) ; Lindner, Jaroslav (referee)
In Introduction, the author of this dissertation deals with postoperative venous thromboembolism (VTE), hereditary and acquired risk factors, prophylaxis regimens and recent recommendation of VTE prevention in surgery. In Practical part of this work the author assesses the risk of VTE in surgical patients according to risk assessment model. Genetic testing is carried out in all patients to determine the incidence of hereditary thrombophilia and coagulation markers are measured in 28-days postoperative period. Prevalence of VTE in 1-year postoperative period is observed. The results are analysed in group of patients with benign disease (hernia and gallstone disease) and group of patients with malignancy (colorectal cancer and pancreatic cancer) separately. The objective of this work is to determine the incidence of the most frequent thrombophilic mutations (factor V Leiden mutation and protrombin G20210A mutation) and assess the impact of hereditary thrombophilia on incidence of postoperative venous thromboembolism in general surgery. Validation of venous thrombosis risk assessment model recommended by Czech Society for Thrombosis and Hemostasis is further objective.
|
|
|
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.
|
guest ::
