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Importance of trombophilic mutations in clinical genetic.
Vavrušková, Klára ; Kuklík, Miloslav (advisor) ; Černá, Marie (referee)
Trombophilia means an increased disposition to creation of trombs. Health complication incurred as a consequence of hypercoagulation can be very serious. When a trombophilic mutation is found at a patient, it brings necassity of thrombosis - control in risk situations (e.g. pregnancy, operation) for the rest of the patient's life. There were filed 300 people (206 women and 94 men) with trombophilic mutations into my study of clinical signification of trombophilic mutations. These people were examinated in years 2008 - 2010. Most of positive medical findings - 266 people, were recorded in the area of MTHFR (C677T i A1298C) mutations. There were less findings in the field of FV Leiden and FII prothrombin mutations. Multipath trombophilic mutations were found at 99 patients. I accordance with foreign literature, our results advert to clinical consequences of trombophilic mutations like: repeated spontanious aborts, cerebrovascular akcident (CA), ischaemic heart disease (IHD), thrombosis, flebothrombosis, pulmonary embolism, varicose veins, aseptic necrosis of hip bone, arterial sclerosis and aortic stenosis. Mutations MTHFR C677T and MTHFR A1298C we found mainly at patients with CA, IM and IHD. Leiden mutation was most often found at patients with thrombosis, flebothrombosis and pulmonary embolism. We...
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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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