Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

The association of thrombosis with miscarriage

Pregnancy under physiological conditions also alters haemostasis, resulting in a hypercoagulable state. Theoretically, the presence of thrombophilia amplifies these changes. The association of thrombophilia with complicated pregnancy and preeclampsia is known, and placental thrombosis is common in women with thrombophilia. The exact pathophysiological role of thrombosis in habitual miscarriage is not known. Thrombosis may adversely affect placental development and function. From a fetal point of view, since maternal blood starts to flow in the intervillous spaces of the placenta at 10 weeks of gestation, the role of thrombophilia is better accepted in miscarriages after 10 weeks. It should be noted, however, that fetal nutrition is highly dependent on the uterine circulation, and therefore thrombus formation there may ultimately play a role in the cause of miscarriage at any gestational age (including earlier than 10 weeks' gestation). An intact thrombomodulin-protein C pathway is essential for the maintenance of pregnancy; activated - and not inactivating - clotting factors induce cell death in placental thromboblast cells. In other words, in the absence of protein C, placental integrity is severely compromised, and miscarriage can therefore be logically explained.

Genetic background of gynecological diseases

Tartalomjegyzék

Kiadó: Akadémiai Kiadó

Online megjelenés éve: 2024

ISBN: 978 963 664 024 8

Orvostudomány

Our book was written with the intention of filling a gap. It is the work of specialists - university lecturers, researchers, clinicians - who come across the described symptoms in their daily practice.

Many previously published publications deal with the gynecological pathologies discussed in the volume, but from the perspective of genetics as an etiological factor, focusing on the genetic background of pathological conditions and women's diseases, no book has yet been published. Nowadays, science is developing rapidly, and almost all diseases are subjected to genetic testing during research. For this reason, only those pathologies will be presented for which the tests so far have clearly confirmed the genetic background, that is, those pathologies for which the possibility of a genetic cause has arisen, but cannot yet be clearly proven, do not form the material of the book.

We recommend the book primarily to health professionals, geneticists, obstetricians and gynecologists, pedoatric gynecologists, and pediatricians, and those preparing for special exams. Medical students and midwifery students interested in the topic can find important information in it, and it can also be useful for "non-specialists".

Hivatkozás: https://mersz.hu/beke-genetic-background-of-gynecological-diseases//

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