Trombofilia dziedziczna u kobiet z poronieniami nawracającymi oraz utratami ciąży w wywiadzie – doświadczenia własne

Summary Single nucleotide polymorphisms of the genes coding for coagulation factors are the cause of congenital thrombophilia which might lead to recurrent miscarriages and fetal loss in advanced pregnancy. The most frequent reasons of thrombophilia are the following: factor V Leiden (1691G>A), mutation 20210G>A of prothrombin gene, and 677C>T of 5,10-methylenetetrahydrofoliate reductase gene. The following article briefly summarizes the administration of antithrombotic prophylaxis (low-molecular weight heparin, acetylsalicylic acid) which seems to be an effective course of action to prevent complications in next pregnancies. What is more, adverse events after long-term usage of low-molecular weight heparin and acetylsalicylic acid in prophylactic doses have not been observed. Due to lack of complete, randomized investigation about the inclusion of antithrombotic prophylaxis in this group of pregnant women, common scheme of administration and optimal dosage is yet to be established.Streszczenie Polimorfizmy pojedynczych nukleotydów genów kodujących czynniki krzepnięcia są przyczyną trombofilii wrodzonej jednocześnie prowadząc do występowania poronień nawracających oraz utraty ciąży w późniejszym okresie czasu jej trwania. Do najczęstszych przyczyn trombofilii należą czynnik V Leiden (1691G>A), mutacja 20210G>A genu protrombiny oraz 677C>T genu reduktazy 5,10-metylenotetrahydrofolianowej. Praca krotko podsumowuje stosowanie profilaktyki przeciwzakrzepowej u ciężarnych z trombofilią wrodzoną i obciążonym wywiadem położniczym. Włączenie profilaktyki przeciwzakrzepowej (heparyna drobnocząsteczkowa, kwas acetylosalicylowy) w tej grupie kobiet ciężarnych wydaje się być efektywnym działaniem zapobiegającym wystąpieniu powikłań w następnej ciąży. Jednocześnie nie obserwuje się działań niepożądanych długotrwałego stosowania LMWH oraz ASA w dawkach profilaktycznych. Ze względu na brak kompletnych, randomizowanych badań dotyczących wdrożenia profilaktyki przeciwzakrzepowej w tej grupie kobiet ciężarnych nie wypracowano jednolitego schematu stosowania i optymalnych dawek podawanych leków

Sacrococcygeal teratoma in foetus – case report

Summary Sacrococcygeal teratoma develops from all three germinal layers (endoderm, mesoderm and ectoderm). Sacrococcygeal teratomas (SCT) are the most common neoplasms in the fetus and newborns, with an estimated prevalence of 1 in 20,000 to 1 in 40,000. Female to male ratio is 3:1. Perinatal mortality rate among fetuses with prenatally diagnosed SCT is high, mainly due to cardiac failure. According to Polish Gynecology Society Recommendation, the main aim of intrauterine intervention or pharmacological treatment in case of prenatally diagnosed SCT is to prevent development of severe fetal cardiac failure. Fetal cardiac failure is one of the most important prognostic factors in surveillance of fetus and newborns with SCT. The following article describes a case report of a 34-year-old pregnant woman, 23 weeks of gestation, with a diagnosis of fetal sacrococcygeal teratoma. Each pregnant woman with suspicion of neoplasm in fetus should be referred to tertiary center of perinatal care to gain access to specific diagnostic methods and medical care of many specialists, such as obstetricians, neonatologists, general practitioners and infant surgeons. The role of psychological care during hospitalization is also invaluable and helps the patient to minimize the mental trauma, due to diagnosed fetal abnormalities

Expert consensus on the usefulness of natriuretic peptides in heart failure

Heart failure (HF) has becoming an increasing clinical and social problem worldwide and despite modern therapy the syndrome still imposes high burden on healthcare systems. In contrast to western countries, the diagnosis of HF in Poland is established later, at more advanced stage of the disease, thus leaving less time for modern therapy and more frequently requiring hospitalisation. As a result, the alarmingly high proportion of patients with HF is treated in hospitals in Poland. According to current guidelines clinical suspicion of HF should be verified based on early assessment of plasma levels of natriuretic peptides. Unfortunately, the key test for early diagnosis, especially in emergency departments and in general practice is not reimbursed and therefore hardly available. The paper provides a short review on the physiology and pathophysiology of natriuretic peptides. Important laboratory issues as well as limitations of their use in specific clinical situations are briefly discussed. Further, we focus on clinical use of natriuretic peptides as an important tool for HF diagnosis, guiding therapy and prognosis. Finally, we put spotlight on the use of natriuretic peptides in prevention of HF and also in ambulatory general practice.Heart failure (HF) has becoming an increasing clinical and social problem worldwide and despite modern therapy the syndrome still imposes high burden on healthcare systems. In contrast to western countries, the diagnosis of HF in Poland is established later, at more advanced stage of the disease, thus leaving less time for modern therapy and more frequently requiring hospitalisation. As a result, the alarmingly high proportion of patients with HF is treated in hospitals in Poland. According to current guidelines clinical suspicion of HF should be verified based on early assessment of plasma levels of natriuretic peptides. Unfortunately, the key test for early diagnosis, especially in emergency departments and in general practice is not reimbursed and therefore hardly available. The paper provides a short review on the physiology and pathophysiology of natriuretic peptides. Important laboratory is¬sues as well as limitations of their use in specific clinical situations are briefly discussed. Further, we focus on clinical use of natriuretic peptides as an important tool for HF diagnosis, guiding therapy and prognosis. Finally, we put spotlight on the use of natriuretic peptides in prevention of HF and also in ambulatory general practice