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. Pathway analysis of the data reveals that cell adhesion and matrisome-related genes are also commonly involved in pregnancy pathologies. We also find a large role of metabolic factors that affect not only gestational diabetes, but also the other traits. These shared metabolic genes include IGF2, PPARG, and NOS3. We further discover that the published genetic associations are poorly replicated in the independent UK Biobank cohort. Nevertheless, we find novel genome-wide associations with pregnancy-related traits for the FBLN7, STK32B, and ACTR3B genes, and replicate the effects of the KAZN and TLE1 genes, with the latter being the only gene identified across all data resources. Overall, our analysis highlights central molecular pathways for pregnancy-related traits, and suggests a need to use more accurate and sophisticated association analysis strategies to robustly identify genetic risk factors for pregnancy complications.

Mortality rate in the Russian Federation in 2018 exceeded the birth rate again. At the same time, a stable and high frequency of early reproductive losses was noted. Every fifth wanted pregnancy terminates spontaneously before the due date. Living in the subarctic zone is associated with several unfavorable climatic factors. Implementation of the reproductive function in these conditions is influenced by region-specific factors, which have multiple effects on the mechanisms of recurrent pregnancy loss. The literature search was performed using PubMed, Medline, Cyberleninka, Scopus and HAC databases. Assessing the degree of adaptation of women of reproductive age living in the subarctic zone of the Russian Federation helps to assess their psychosomatic status and heart rate variability. Taking into account the adaptation parameters, certain patterns were revealed for women of reproductive age, as well as for each trimester of a normal and pathologically ongoing pregnancy. Particular attention in the assessment of adaptive resources of the body deserve leukocyte indices, by changing the parameters of which it is possible to make a forecast of the ongoing pregnancy. The results of this review are of interest to the clinicians working in the subarctic zone of Russia from the standpoint of personalized approach to prevention and prediction of recurrent pregnancy loss.

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Cardiovascular diseases (CVDs) remain one of the most urgent health problems worldwide. These diseases cover a large population groups and affect all age groups regardless of gender. Heart failure (HF), as a natural complication of most CVDs, is not an exclusive disease of the elderly people. There are numerous and complex pathophysiological mechanisms that operate regardless of age and cause HF. These include traditional cardiovascular risk factors (arterial hypertension, dyslipidemia, overweight), low living standards, and problematic access to health system due to socio-economic inequalities. Special attention is currently paid to the problem of early heart failure diagnosis. So, today the medical community is discussing the possibility of using such a non-invasive technique as ultrasound to study cardiac strain. Currently, ultrasound is an affordable and highly informative technique for early diagnosis of HF manifestations. The authors consider the issue of not only clinical, but also prognostic significance of cardiac strain indicators in patients with CVD and HF. This review highlights the main issues of cardiac strain assessment, ultrasound advantages and limitations. The authors studied publicly available literature and analyzed promising directions for ultrasound application in modern cardiology. For literary analysis, the resources of PubMed, eLibrary, CyberLeninka, MedLine, Google Scholar, and Elsevier were used. Keywords: heart failure, echocardiography, cardiac strain, cardiovascular risk. Сердечно-сосудистые заболевания (ССЗ) остаются одной из наиболее актуальных проблем здравоохранения во всем мире. Они охватывают обширную группу населения и затрагивают все возрастные категории вне зависимости от пола. Сердечная недостаточность (СН), как закономерное осложнение большинства ССЗ, не является болезнью исключительно пожилых людей. Существуют многочисленные и сложные патофизиологические механизмы, которые реализуются вне зависимости от возраста и приводят к СН. Они включают традиционные факторы сердечно-сосудистого риска (артериальную гипертензию, дислипидемию, избыточную массу тела), низкий уровень жизни населения, а также неоптимальный доступ к системам здравоохранения из-за социально-экономического неравенства. Особое внимание в настоящее время уделяется проблеме ранней диагностики СН. Так, сегодня медицинское сообщество обсуждает возможность использования такой неинвазивной методики, как ультразвуковое исследование (УЗИ), в целях изучения деформации миокарда. УЗИ в настоящее время – это доступная и высокоинформативная методика для ранней диагностики проявлений СН. Обсуждается вопрос не только клинической, но и прогностической значимости показателей деформации миокарда у больных с ССЗ и СН. В настоящем обзоре освещены основные вопросы оценки деформации миокарда, преимущества, а также ограничения использования этой методики. На основании полученных в открытых источниках литературы данных проведен анализ перспективных направлений применения этой методики в современной кардиологии. Для литературного поиска были использованы ресурсы поисковых систем PubMed, eLibrary, CyberLeninka, MedLine, Google Scholar, Elsevier. Ключевые слова: сердечная недостаточность, эхокардиография, деформация миокарда, сердечно-сосудистый риск.