Genetic Aspects of Hereditary Arrhythmogenic Syndromes in Children and Adults.

Recent research has revealed the genetic etiology of a number of heart diseases that cause sudden cardiac death. Lethal channelopathies are of great importance among the genetically determined heart diseases. Their basic characteristics are unpredictable and deadly nature, autosomal dominant inheritance with variable expressivity and incomplete penetrance in structurally normal heart, and absence of morphological and histological clues that a standard autopsy can identify. Minimum screening of the relatives of sudden cardiac death victims involves taking medical history, physical examination, electrocardiography, echocardiography, and exercise testing. Total positivity of classic genetic tests is only 15%-25%. Even the next generation sequencing technology does not provide a positive result of genetic testing in more than 35% of cases. Therefore, it is necessary to identify a larger number of genes the presence of which can lead to sudden cardiac death, to reduce the number of false positive results, and point to the importance of conducting genetic testing of young victims of sudden cardiac death. Until then, it is enough to preserve 5 g of fresh heart tissue of sudden cardiac death victims at a temperature of -80 °C. The material can be analyzed years later without losing its actuality because it contains information important for the next generation of the sudden cardiac death victim relatives.

Galen Vein Aneurysm- Challenge for Treatment.

The term vein of Galen aneurysm is related to a group of different vascular anomalies, with one common distinction being the dilatation of the vein of Galen. It represents a rear vascular anomaly, whose incidence is yet unknown, although some authors suggest numbers around 1:25000 deliveries. It accounts for only 1% of all intracranial malformations, but the percentage of this anomaly in pediatric populations is up to 30%. In most cases the diagnosis is made postnatal, while antenatal diagnosis, because of the pathophysiology of aneurysm itself, as well as pathophysiology of its possible complications, is made usually during the third trimester, frequently after the 34th week of gestation. The earliest reported diagnosis was made at 25 weeks' gestation. In this case we present 25-year old gravida, pregnancy at 28th week of gestation with aneurysm, and sonographically detected aneurysm of the vein of Galen, that ended with termination of pregnancy.

[Impact of vaginal and cervical colonisation/infection on preterm delivery].

BACKGROUND/AIM: Preterm delivery together with insufficient body weight and death cases in newborns is the main issue in obstetrics. About 40% of preterm delivery is caused by infections. The aim of this study was to investigate whether and which bacterial infections of genital tract can be associated with preterm delivery, and depending on when diagnosis was made. METHOD: The study involved 216 pregnant women. According to pregnancy outcome, two groups were formed. The study group involved 29 pregnant women who had preterm delivery out of which nine were examined in I trimester, eight in II trimester and 12 in III trimester. The control group involved 187 pregnant women out of which 47 were examined in I trimester, 73 in II trimester and 67 in III trimester. Bacteriological examination of vaginal and cervical swabs was done in all pregnant women. Infection was diagnosed by finding bacterial antigen in cervical swabs or positive cultures of vaginal and/or cervical swabs followed by the presence of the increased number of polymorphonuclears in direct microscopic preparation. RESULTS: The results showed that in III trimester of pregnancy vaginal bacterial infection was statistically more common (p = 0.021) in women who had preterm delivery (66.7%) in relation to women who delivered in term (29.9%). In this period of gestation the increased number of polymorphonuclears in DMP of vaginal swabs is more common in the women of the study group (75%) than in the women of the control group (43.3%). Preterm delivery was registered in 16.1% women whose microbiological analyses were done in I trimester, 9.9% women in whom microbiological analyses were done in II trimester and in 15.2% pregnant women microbiologically tested in III trimester. CONCLUSION: Based on the obtained results it could be concluded that bacterial infections of genital tract and period of gestation when infection is diagnosed have influence on reducing perinatal morbidity and mortality caused by preterm delivery.