Family case of Potocki-Lupski syndrome.

Background: Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide variability of clinical expression, which can make its clinical and molecular diagnosis challenging.

Matrix metalloproteinases MMP-2 and MMP-9 as markers for the prediction of preeclampsia in the first trimester.

Introduction: Preeclampsia is a life-threatening condition for the mother and foetus. Globally, it is dia-gnosed in 10 mil. women every year, which accounts for 3% to 8% of all pregnancies.

A Data-Driven Review of the Genetic Factors of Pregnancy Complications.

Over the recent years, many advances have been made in the research of the genetic factors of pregnancy complications. In this work, we use publicly available data repositories, such as the National Human Genome Research Institute GWAS Catalog, HuGE Navigator, and the UK Biobank genetic and phenotypic dataset to gain insights into molecular pathways and individual genes behind a set of pregnancy-related traits, including the most studied ones-preeclampsia, gestational diabetes, preterm birth, and placental abruption. Using both HuGE and GWAS Catalog data, we confirm that immune system and, in particular, T-cell related pathways are one of the most important drivers of pregnancy-related traits.

[Capacities of digital mammography in screening].

The purpose of the study was to estimate the capacities of digital mammography in screening in women followed up by a mammologist in the Surgut Clinical Perinatal Center. The results of analog and digital mammography were compared using a Senographe DS in 1772 subjects who had been followed up by a mammologist in the Surgut Clinical Perinatal Center for 3-7 years. Females in whom mammography was first made as a basic study on a digital mammography were identified in an individual group of 887 subjects.