Preeclampsia (PE) is a leading cause of maternal and neonatal morbidity and mortality worldwide. Defects in trophoblast invasion, differentiation of extravillous trophoblasts and spiral artery remodeling are key factors in PE development. Currently there are no predictive biomarkers clinically available for PE. Recent technological advancements empowered transcriptome exploration and led to the discovery of numerous non-coding RNA species of which microRNAs (miRNAs) and long non-coding RNAs (lncRNAs) are the most investigated. They are implicated in the regulation of numerous cellular functions, and as such are being extensively explored as potential biomarkers for various diseases. Altered expression of numerous lncRNAs and miRNAs in placenta has been related to pathophysiological processes that occur in preeclampsia. In the following text we offer summary of the latest knowledge of the molecular mechanism by which lnRNAs and miRNAs (focusing on the chromosome 19 miRNA cluster (C19MC)) contribute to pathophysiology of PE development and their potential utility as biomarkers of PE, with special focus on sample selection and techniques for the quantification of lncRNAs and miRNAs in maternal circulation.

Fanconi anemia (FA) is characterized by sensitivity to DNA cross-linking agents, mild cellular, and marked clinical radio sensitivity. In this study we investigated telomeric abnormalities of non-immortalized primary cells (lymphocytes and fibroblasts) derived from FA patients of the FA-D2 complementation group, which provides a more accurate physiological assessment than is possible with transformed cells or animal models.

Objective The objective of this study was to analyze if the addition of simple cardiac scan in cases with increased nuchal translucency (NT) and/or abnormal ductus venosus (DV) blood flow, and/or tricuspid regurgitation (TCR) can improve detection of congenital heart defects (CHD) in chromosomally normal fetuses without non‐cardiac defects at 11‐13 + 6 gestational weeks in a population of singleton pregnancies. Methods During the 10 years period, all singleton pregnancies at 11‐13 + 6 weeks were routinely scanned for NT, DV blood flow and TCR assessment and, if a single of these parameters was abnormal, simple cardiac scan with 2D gray scale and color and/or directional power Doppler in 4‐chamber (4‐CV) and 3 vessel and trachea views (3VTV) was performed. Results The sensitivity and specificity of NT ≥ 95th + DV R/A a‐wave + TCR in detecting CHD were 77% and 97%, respectively, and of simple cardiac scan, 67% and 98%, respectively. Area under the curve of receiver operating characteristic curve of NT ≥ 95th + DV R/A a‐wave + TCR was 0.838, and of NT ≥ 95th + DV R/A a‐wave + TCR + simple cardiac scan was 0.915. Conclusions In chromosomally normal fetuses without non‐cardiac anomalies, addition of simple cardiac scan to the combined first trimester screening parameters improves detection of major CHD during first trimester.

Summary: Background: Recurrent pregnancy loss (RPL) is a heterogeneous condition affecting up to 5% of women of reproductive age. Inherited thrombophilia have been postulated as one of the causes of RPL. Here we examined the prevalence of nine thrombophilic gene polymorphisms among women with history of recurrent miscarriages and fertile controls.Methods: The study included 70 women with history of at least three early pregnancy losses and 31 fertile controls with no miscarriages. We investigated mutations in genes responsible for clotting and fibrinolysis, including factor V (FV) Leiden, FV H1299R, factor II (FII) G20210A, methylene tetrahydrofolate reductase (MTHFR) C677T and A1298C, factor XIII (FXIII) V34L, plasminogen activator inhibitor-1 (PAI-1) 4G/5G and endothelial protein C receptor (EPCR) H1 and H3 haplotypes using reverse polymerase chain reaction ViennaLab cardiovascular disease StrippAssays.Results: Our results showed no significant increase in prevalence of tested polymorphisms in women with RPL. However, relative risk for PRL among women heterozygous for FXIII V34L was 2.81 times increased (OR 2.81, 95% CI 1.15–6.87, P=0.023). Haplotype analysis showed that combined presence of high-risk genotypes for FXIII and PAI-1 significantly increases risk for RPL (OR 13.98, CI 95% 1.11–17.46, P=0.044).Conclusions: This is the first study in Serbian population that investigated prevalence of FVR2, A1298C, FXIII V34L and EPCR gene variants. Compound heterozygosity for FXIII V34L and PAI-1 4G is significant risk factor for recurrent miscarriage. Our results should be viewed in context of small case-control study, so further large prospective studies are need for confirmation of our findings.

Self-confidence plays an important role in both genders’ sexual functioning. Lack of genital self-esteem may have negative effects on psychosexual development, especially in males, where deviations from a standardized normal penile appearance can lead to inhibitions in entering into sexual relationships. The aim of our study was to evaluate the informativeness of studied domains of the Global Sexual Functioning (GSF) questionnaire and sexual functioning of patients surgically treated in childhood for different types of hypospadias. We evaluated 63 males with hypospadias and 60 healthy age- and gender-matched controls. The GSF questionnaire was used to estimate psychosexual function as a long-term follow-up after the surgical correction of hypospadias in the patient and control groups. Sexual activity (p = 0.017), arousal (p = 0.033) and orgasmic abilities (p = 0.002) values were significantly increased in patients. Strong correlation was noticed between sexual activity and sexual desire (R = 0.872); arousal and sexual desire (R = 0.753), as well as orgasmic and erectile abilities (R = 0.769). Different domains of psychosexual functioning in the patient group correlated with each other to various degrees, resulting in a heterogeneous expression of psychosexual dysfunctions, implicating the necessity of a personalized treatment approach.