RNA sequencing of single cells obtained from immunolabeled tumor sections: the first experience

We performed laser microdissection-assisted RNA sequencing of single cells of breast tumo

SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold

The aim of the study was to assess the diagnostic potential of SNP-based chromosomal microarray analysis for detecting pathogenic copies number variations (CNVs) in fetuses with a normal karyotype, in which an increase in the nuchal translucence of >2.5 mm was detected by ultrasound at a gestational age of 11 weeks to 13 weeks 6 days. MATERIALS AND METHODS: The study included 225 pregnant women who underwent invasive prenatal diagnostic procedures following the detection of an isolated thickening of the fetal nuchal fold. The fetal material obtained was examined using a cytogenetic test; if a normal karyotype was confirmed, chromosomal microarray analysis was performed as a second-line test. RESULTS: Pathogenic CNVs were detected in 22 of 225 fetuses (9.8%) with a normal karyotype. Of these 22 fetuses, pathogenic CNVs not classified as syndromes were detected in 14 cases (63.6%), and those previously described as syndromes — in 8 cases (36.4%). In 9 fetuses (41%), CNVs in two non-homologous chromosomes were determined; these findings indicated a high likelihood of carrying balanced translocations in the parents. Indeed, when analyzing the parent’s karyotype, in 8 out of 9 couples, balanced translocations were found in one of the parents. CONCLUSION: Using chromosomal microarray analysis in fetuses with a thickened nuchal fold makes it possible to increase the ability to detect chromosomal imbalances, including those caused by pathological meiotic segregation of parental reciprocal translocation

A single blind, placebo-controlled randomized study of the safety, reactogenicity and immunogenicity of the “EpiVacCorona” Vaccine for the prevention of COVID-19, in volunteers aged 18–60 years (phase I–II)

Vaccination of the population is one of the most effective countermeasures in responding to the pandemic caused by novel coronavirus infection. Therefore, scientists all over the world have been working to develop effective and safe vaccines. We have developed a synthetic peptide vaccine, EpiVacCorona, against novel SARS-CoV-2 coronavirus, which is a suspension for intramuscular administration containing a composition of chemically synthesized peptide immunogens of the S protein of SARS-CoV-2 coronavirus conjugated to a carrier protein and adsorbed on aluminum hydroxide. Phase I–II clinical trials of the vaccine have started that consist of two stages: Stage 1 is an open study of the safety, reactogenicity, and immunological activity of the vaccine with the involvement of 14 volunteers aged 18–30 years; Stage 2 is a single blind, comparative, randomized placebo-controlled study with the involvement of 86 volunteers. The study involved volunteers aged 18–60 years; the vaccine was injected intramuscularly twice, spaced 21 days apart between injections. All local reactions in response to vaccine administration were mild, such as a short-term pain at the injection site. There were no signs of development of local or systemic adverse reactions. The two-dose vaccination scheme induced the production of antibodies, specific to the antigens that make up the vaccine, in 100% of the volunteers. Seroconversion with a neutralizing antibody titer ≥ 1:20 was reported in 100% of the volunteers 21 days following the second immunization dose. No seroconversion was reported in the groups of volunteers vaccinated with a placebo. The peptide-based EpiVacCorona Vaccine has low reactogenicity and is a safe, immunogenic product. Clinical Trials Identifier: NCT04527575

Comparative review of methods for diagnosing chromosomal abnormalities in fetuses with malformations and / or echographic markers of chromosomal pathology

The article presents a comparative analysis of methods used for the diagnosis of genetic pathology in fetuses with malformations and / or developmental abnormalities. The standard cytogenetic analysis of the karyotype is most widely implemented and used, however, the low resolution of this method in 8Mb does not allow for the detection of microdeletions and microduplications, which in turn in 5-6% of cases are the causes of malformations and / or developmental abnormalities in the fetus. When using chromosomal microarray analysis (CMA) it increases the diagnostic efficacy of prenatal diagnosis, which allows making a diagnosis in a timely manner, determining the prognosis for the life of the child after birth. The choice of method for diagnosing genetic pathology in fetuses with congenital malformations and / or developmental abnormalities is currently not regulated and is often based on the technical capabilities of the laboratory. At the moment, a large amount of data has been accumulated confirming the effectiveness of the use of SNP microarrays compared to classical cytogenetic methods.В статье представлен сравнительный анализ методов, применяемых для диагностики хромосомных аномалий у плодов, имеющих пороки развития и/или эхографические маркеры хромосомной патологии. Наиболее широко внедрен и используется стандартный цитогенетический анализ кариотипа, однако небольшая разрешающая способность данного метода в 8Мb не позволяет выявлять микроделеции, микродупликации, которые в свою очередь в 5-6% случаев являются причинами пороков и/или аномалий развития у плода. Применение хромосомного микроматричного анализа (ХМА) увеличивает диагностическую эффективность пренатальной диагностики, и позволяет своевременно поставить диагноз, определив прогноз для жизни ребенка после рождения. Выбор метода диагностики генетической патологии у плодов с ВПР и/или аномалиями развития на данный момент ничем не регламентирован и зачастую основан на технических возможностях лаборатории. На данный момент, накоплен большой массив данных, подтверждающих эффективность применения SNP-микроматриц по сравнению с классическими цитогенетическими методами

SYNTHESIS, STRUCTURE AND TRANSPORT PROPERTIES OF Sc-DOPED LAYERED PEROVSKITE BASED ON SrLa2Sc2O7

The acceptor-doped two-layer perovskites based on SrLa2Sc2O7 were synthesized by solid-phase method. The possibility of water absorption was confirmed by thermogravimetric measurements. The conductivity was measured at varying T and pH2O

Глутаровая ацидурия типа 1 у детей. Клиническое представление 46 случаев, диагностированных в России

Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the enzyme glutaryl‑CoA dehydrogenase. Metabolic crisis in type 1 glutaric aciduria is an acute life‑threatening condition that requires careful diagnosis with a number of other conditions and the immediate initiation of pathogenetic therapy.Materials and methods. Clinical manifestations, neuroimaging characteristics of the disease were studied in 46 patients with diagnosed glutaric aciduria type 1 confirmed by biochemical and molecular genetic methods. Methods: gas chromatography with mass spectrometry, tandem mass spectrometry, Sanger sequencing, chromosomal microarray analysis of the exon level.Results and discussion. A retrospective analysis of anamnestic and clinical data was carried out, and the nature and age of disease manifestation, provoking factors, a spectrum of clinical manifestations and neuroimaging data were assessed.Conclusion. How initiated treatment prevents progression of neurological symptom relief and patient adaptation. With the help of the goal, it is necessary to inform pediatricians, neurologists and neuroradiologists about this feature of the course of glutaric aciduria type 1 in order to increase the clinical alertness of this disease.Введение. Глутаровая ацидурия типа 1 – аутосомно‑рецессивное заболевание, обусловленное мутациями в гене GCDH, кодирующем фермент глутарил‑КоА дегидрогеназу. Метаболический криз при глутаровой ацидурии типа 1 – это острое жизнеугрожающее состояние, требующее тщательной дифференциальной диагностики с рядом других состояний и незамедлительного начала патогенетической терапии.Материалы и методы. Клинические проявления, нейровизуализационные характеристики болезни изучены у 46 пациентов с подтвержденным биохимическими и молекулярно‑генетическими методами диагнозом глутаровой ацидурии типа 1. Методы: газовая хроматография с масс‑спектрометрией, тандемная масс‑спектрометрия, секвенирование по Сэнгеру, хромосомный микроматричный анализ экзонного уровня.Результаты и обсуждение. Проведен ретроспективный анализ анамнестических данных, клинических, а также оценены характер и возраст манифестации болезни, провоцирующие факторы, спектр клинических проявлений и нейровизуализационные данные.Заключение. При отсутствии массового неонатального скрининга крайне важное значение имеет ранняя диагностика болезни, так как своевременно начатое лечение поможет предотвратить прогрессирование неврологической симптоматики и способствовать адаптации пациентов. С этой целью необходимо информировать врачей‑педиатров, неврологов и нейрорадиологов об особенностях протекания глутаровой ацидурии типа 1 для повышения клинической настороженности в отношении данного заболевания

Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020

We show the distribution of SARS-CoV-2 genetic clades over time and between countries and outline potential genomic surveillance objectives. We applied three available genomic nomenclature systems for SARS-CoV-2 to all sequence data from the WHO European Region available during the COVID-19 pandemic until 10 July 2020. We highlight the importance of real-time sequencing and data dissemination in a pandemic situation. We provide a comparison of the nomenclatures and lay a foundation for future European genomic surveillance of SARS-CoV-2.Peer reviewe