Clinical tests based on whole-genome sequencing are generally focused on a single task approach, testing one or several parameters, although whole-genome sequencing (WGS) provides us with large data sets that can be used for many supportive analyses. In spite of low genome coverage, data of WGS-based non-invasive prenatal testing (NIPT) contain fully sequenced mitochondrial DNA (mtDNA). This mtDNA can be used for variant calling, ancestry analysis, population studies and other approaches that extend NIPT functionality. In this study, we analyse mtDNA pool from 645 cell-free DNA (cfDNA) samples of pregnant women from different regions of Russia, explore the effects of transportation and storing conditions on mtDNA content, analyse effects, frequency and location of mitochondrial variants called from samples and perform haplogroup analysis, revealing the most common mitochondrial superclades. We have shown that, despite the relatively low sequencing depth of unamplified mtDNA from cfDNA samples, the mtDNA analysis in these samples is still an informative instrument suitable for research and screening purposes.
ФБГу «ФМИЦ им. В.А. Алмазова» Минздрава России, Москва, тел. 8 (911)-288-90-95, e-mail: doivanov@yandex.ru Реферат. Цель исследования -изучить эпидемиологические показатели и факторы риска развития неонаталь-ного сепсиса на примере отделения анестезиологии и интенсивной терапии для новорожденных. Материал и методы. Проведено ретроспективное одноцентровое обсервационное когортное исследование 48 историй болезни новорожденных с ранним и поздним неонатальным сепсисом, находившихся на лечении в ОАиТН в 2012-2013 гг. Результаты и их обсуждение. Выявлено, что на современном этапе стираются различия между ранним и поздним сепсисом как в отношении гестационного возраста и веса детей, так и в отношении факторов риска и даже представителей грамположительных и грамотрицательных штаммов. Особую тревогу вызывает выделение у новорожденных из родильных домов значительного количества полирезистентных как грамположи-тельных, так и грамотрицательных изолятов. Заключение. Неонатальный сепсис следует считать не отдельной нозологической формой, а синдромом. Его подразделение на ранний и поздний не влияет на выбор терапии и должно учитываться при планировании мероприятий инфекционного контроля в стационарах. Abstract. Aim.To study the epidemiological indicators and risk factors for neonatal sepsis of the neonatal intensive care unit (NICU) of tertiary hospital.Material and methods: A retrospective, single-center, observational cohort study of 48 case reports of newborns with early and late neonatal sepsis treated in NICU in 2012-2013. Results and discussion. It was revealed that nowadays the differences between early and late sepsis in relation to gestational age and weight of infants as well as risk factors and even representatives of Gr + and Gr -strains disappeared. Particular concern is the allocation of a significant number of multi-drug resistant Gr + and Gr isolates in neonates admitted from maternity hospitals. Conclusion. Neonatal sepsis might be determined not as separate disease but as a syndrome. Its division into early and late does not affect the choice of therapy and should be considered in the planning activities of hospital infection control.
In the article are presented classifications, causes and epidemiology of acute kidney injury (AKI) in newborns, unsolved problems. Neonatal AKI classifications proposed by Acute Kidney Injury Network (2007), JG Jetton, DJ Askenazi (2012), modifications from NKC, KDIGO, and AWAKEN (2016), AKI Workshop (2017) are discussed. The results of the international assessment Assessment of Worldwide Acute Kidney Injury Epidemiology in Neonates (AWAKEN), JG Jetton et al (2016, 2017) are discussed. Of the 2022 babies, 605 (30 %) had the status of AKI: in 48 % of the 273 preterm neonates with gestatoinal age 22-29 weeks; 18 % of 916 preterm neonates with gestatoinal age 29-36 weeks; in 37 % of 833 neonates with gestatoinal age after 36 weeks. The risk factors for the development of early AKI in preterm infants include low gestational age and very low birth weight. According to international epidemiological studies, the development of AKI in premature newborns is the main and independent risk factor for mortality and the formation of chronic kidney disease. The absence of multicenter epidemiological studies of acute kidney damage in newborns in our country is still an unsolved problem. The solution of the problem facing the national neonatology should be aimed at ensuring a unified approach to the classifications of acute kidney damage, on studying epidemiology, features of development, course, and outcome of acute kidney damage of various etiologies, on developing algorithms for prevention, diagnosis and treatment in term and preterm infants.
ДЕНИС НИКОЛАЕВИЧ СУРКОВ, канд. мед. наук, зав. отделением анестезиологии и интенсивной терапии для новорожденных с блоком субинтенсивного лечения для недоношенных и больных новорожденных коммунального предприятия «областная детская клиническая больница» г. Днепропетровска, главный внештатный детский анестезиолог Главного управления здравоохранения Днепропетровской областной государственной администрации украины, украина,
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