Редкий случай абсцесса червя мозжечка туберкулезной этиологии

Review of a patient with HIV infection and generalized tuberculosis against the background of progression of neurological deficit complicated by irregular therapy. Features of diagnosis and differential diagnosis of brain lesions in immunosuppression.  Обзор пациента с ВИЧ-инфекцией и генерализованным туберкулезом на фоне прогрессирования неврологического дефицита, осложненного нерегулярным приемом терапии. Особенности диагностики и дифференциальной диагностики поражений головного мозга при иммуносупрессии.

Identification of Novel Candidate Markers of Type 2 Diabetes and Obesity in Russia by Exome Sequencing with a Limited Sample Size

Type 2 diabetes (T2D) and obesity are common chronic disorders with multifactorial etiology. In our study, we performed an exome sequencing analysis of 110 patients of Russian ethnicity together with a multi-perspective approach based on biologically meaningful filtering criteria to detect novel candidate variants and loci for T2D and obesity. We have identified several known single nucleotide polymorphisms (SNPs) as markers for obesity (rs11960429), T2D (rs9379084, rs1126930), and body mass index (BMI) (rs11553746, rs1956549 and rs7195386) (p < 0.05). We show that a method based on scoring of case-specific variants together with selection of protein-altering variants can allow for the interrogation of novel and known candidate markers of T2D and obesity in small samples. Using this method, we identified rs328 in LPL (p = 0.023), rs11863726 in HBQ1 (p = 8 × 10−5), rs112984085 in VAV3 (p = 4.8 × 10−4) for T2D and obesity, rs6271 in DBH (p = 0.043), rs62618693 in QSER1 (p = 0.021), rs61758785 in RAD51B (p = 1.7 × 10−4), rs34042554 in PCDHA1 (p = 1 × 10−4), and rs144183813 in PLEKHA5 (p = 1.7 × 10−4) for obesity; and rs9379084 in RREB1 (p = 0.042), rs2233984 in C6orf15 (p = 0.030), rs61737764 in ITGB6 (p = 0.035), rs17801742 in COL2A1 (p = 8.5 × 10−5), and rs685523 in ADAMTS13 (p = 1 × 10−6) for T2D as important susceptibility loci in Russian population. Our results demonstrate the effectiveness of whole exome sequencing (WES) technologies for searching for novel markers of multifactorial diseases in cohorts of limited size in poorly studied populations

Analysis of statistical indicators of congenital anomalies as causes of early neonatal death in the Russian Federation

The article contains the analysis of Rosstat data for 2012–2016 on early neonatal death due to congenital developmental anomalies. From 2012 to 2016 there was an annual progressive decrease in the number of early neonatal deaths (from 6969 to 4113) in the Russian Federation. The total number of newborns died in the first 168 hours of life due congenital anomalies decreased from 1126 (2012) to 759 (2016), while the values of early neonatal mortality decreased from 366.4 to 217.8. However, the proportion of such infants increased from 16.2% (2012) to 18.5% (2016) from the total number of deaths in the early neonatal period. The type of defects and the frequency of their registration as the initial cause of early neonatal death differ in the federal districts of the Russian Federation and there are certain gender differences.Conflict of interest: The authors of this article confirmed the lack of conflict of interest and financial support, which should be reported

Contribution of low weight births to annual reproductive losses

The work is devoted to reproductive losses of children born with body weight up to 2500 g according to WHO criteria for 2012-2013. Changes in registration of births promoted growth of preterm infants that led to the increase in their contribution to the volume of reproductive losses

Comparative analysis of stillbirth rates in the Russian Federation in 2010 and 2012

The paper comparatively analyzes the Federal State Statistics Service’s (Posstat) data on stillbirth rates in the Russian Federation and its federal districts in 2010 and 2012. It is established that there is a preponderance of an antenatal component in the pattern of stillbirth in all the districts. According to the Rosstat data, the most common cause of stillbirth is fetal hypoxia that amounted to 74,6% and 73,9% of the total stillbirths in 2010 and 2012, respectively. The increase in the total stillbirth rates in 2012, by considering the fetal deaths occurring in earlier stages (at 22 to 28 weeks’ gestation), was attended by a decline in the proportion of stillbirths due to hypoxia and by a rise in the proportion of congenital malformations as a cause of death

Expanding the genetic code: Unnatural base pairs in biological systems

The genetic code is considered to use five nucleic bases (adenine, guanine, cytosine, thymine and uracil), which form two pairs for encoding information in DNA and two pairs for encoding information in RNA. Nevertheless, in recent years several artificial base pairs have been developed in attempts to expand the genetic code. Employment of these additional base pairs increases the information capacity and variety of DNA sequences, and provides a platform for the site-specific, enzymatic incorporation of extra functional components into DNA and RNA. As a result, of the development of such expanded systems, many artificial base pairs have been synthesized and tested under various conditions. Following many stages of enhancement, unnatural base pairs have been modified to eliminate their weak points, qualifying them for specific research needs. Moreover, the first attempts to create a semi-synthetic organism containing DNA with unnatural base pairs seem to have been successful. This further extends the possible applications of these kinds of pairs. Herein, we describe the most significant qualities of unnatural base pairs and their actual applications

Expanding the genetic code: Unnatural base pairs in biological systems

The genetic code is considered to use five nucleic bases (adenine, guanine, cytosine, thymine and uracil), which form two pairs for encoding information in DNA and two pairs for encoding information in RNA. Nevertheless, in recent years several artificial base pairs have been developed in attempts to expand the genetic code. Employment of these additional base pairs increases the information capacity and variety of DNA sequences, and provides a platform for the site-specific, enzymatic incorporation of extra functional components into DNA and RNA. As a result, of the development of such expanded systems, many artificial base pairs have been synthesized and tested under various conditions. Following many stages of enhancement, unnatural base pairs have been modified to eliminate their weak points, qualifying them for specific research needs. Moreover, the first attempts to create a semi-synthetic organism containing DNA with unnatural base pairs seem to have been successful. This further extends the possible applications of these kinds of pairs. Herein, we describe the most significant qualities of unnatural base pairs and their actual applications

CuO-Fe2O3 Nanoparticles Supported on SiO2 and Al2O3 for Selective Hydrogenation of 2-Methyl-3-Butyn-2-ol

In this study, novel SiO2- and Al2O3-supported Cu-Fe catalysts are developed for selective hydrogenation of 2-methyl-3-butyne-2-ol to 2-methyl-3-butene-2-ol under mild reaction conditions. TEM, XRD, and FTIR studies of adsorbed CO and TPR-H2 are performed to characterize the morphology, nanoparticle size, and particle distribution, as well as electronic state of deposited metals in the prepared catalysts. The deposition of Fe and Cu metal particles on the aluminum oxide carrier results in the formation of a mixed oxide phase with a strong interaction between the Fe and Cu precursors during the calcination. The highly dispersed nanoparticles of Fe2O3 and partially reduced CuOx, with an average size of 3.5 nm and with strong contact interactions between the metals in 5Cu-5Fe/Al2O3 catalysts, provide a high selectivity of 93% toward 2-methyl-3-butene-2-ol at complete conversion of the unsaturated alcohol