ЭКОЛОГО-ГЕОХИМИЧЕСКАЯ ОЦЕНКА ТЕРРИТОРИИ РАЙОНА КОСИНО-УХТОМСКИЙ (Г. МОСКВА)

Modern professional competent expert of ecology and environmental management, should have an opportunity to consolidate their knowledge in the nature observation in in the period of your study. Since 2010 the opportunity of conduction of universities practices is fulfilled in the Kosino-Ukhtomsky area of Moscow. This practices is necessary to reinforce knowledge of pedolody, geobotany, geochemistry, bio- geochemistry and environment. The main tasks is detailed study of soil and plants cover, hydrological network and relief, pollution of soil cover, migration conditions of water-soluble pollutants. This tasks deciding since 2010 to present by authors.С 2010 г. в районе ВАО г. Москвы Косино-Ухтомский проводилось детальное исследование почвенного покрова, гидрографической сети и рельефа, особенностей загрязнения почвенного покрова, условия миграции водорастворимых форм поллютантов с целью информационного обеспечения возможности проведения на данной территории межвузовских полевых практик, направленных на закрепление теоретических навыков в области почвоведения, геоботаники, геохимии, биогеохимии и экологии

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD. We screened a large cohort of patients comprising 89 independent cases and families with various subforms of RD applying different NGS platforms. While mutation screening in 50 cases was performed using a RD gene capture panel, 47 cases were analyzed using whole exome sequencing. One family was analyzed using whole genome sequencing. A detection rate of 61% was achieved including mutations in 34 known and two novel RD genes. A total of 69 distinct mutations were identified, including 39 novel mutations. Notably, genetic findings in several families were not consistent with the initial clinical diagnosis. Clinical reassessment resulted in refinement of the clinical diagnosis in some of these families and confirmed the broad clinical spectrum associated with mutations in RD genes

Дисбаланс в системе свободнорадикального окисления липидов и антирадикальной защиты у больных с алкогольным делирием

The article presents survey data of 45 patients with delirium tremens. The indicators of free radical oxidation of lipids and antiradical protection - Malon dialdehyde, chemiluminescent indicators of peroxidation, Schiff bases as well as activity of antiradical enzymes - glutathione peroxidase, superoxide dismutase and glutathione reductase are studied. It was found that in delirium tremens there is an imbalance in the system of free radical oxidation of lipids - antiradical protection, with the development of accelerated lipoperoxidation and insufficient antioxidant activity of enzymes. With the help of these results it is possible to predict the severity of delirium tremens to develop optimal tactics of therapy.Приведены данные обследования 45 пациентов с алкогольным делирием. Исследованы показатели свободнорадикального окисления липидов и антирадикальной защиты: малоновый диальдегид, хемилюминисцентные показатели перекисного окисления, основания Шиффа, активность антирадикальных ферментов - глутатионпероксидазы, супероксиддисмутазы и глутатионредуктазы. Установлено, что при алкогольном делирии происходит дисбаланс в системе свободнорадикального окисления липидов - антирадикальной защиты, с развитием ускоренной липопероксидации и недостаточной антиокислительной активности ферментов. С помощью полученных результатов возможно осуществлять прогноз тяжести алкогольного делирия для выработки оптимальной тактики терапии