deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome.

Inborn errors of T cell development present a pediatric emergency in which timely curative therapy is informed by molecular diagnosis. In 11 affected patients across four consanguineous kindreds, we detected homozygosity for a single deleterious missense variant in the gene NudC domain-containing 3 () Two infants had severe combined immunodeficiency with the complete absence of T and B cells (TB SCID), whereas nine showed classical features of Omenn syndrome (OS). Restricted antigen receptor gene usage by residual T lymphocytes suggested impaired V(D)J recombination.

[Comparative effectiveness of ursodeoxycholic acid preparations in the treatment of biliary sludge].

Unlabelled: In the clinical classification of cholelithiasis, biliary sludge (BS) is distinguished as the pre-stone stage. Ursodeoxycholic acid (UDCA) is a drug with an evidence base for effective and safe effects on BS. The therapeutic equivalence of various UDCA drugs remains an important issue for clinical practice.

Optimizing the genetic prediction of the eye and hair color for North Eurasian populations.

Background: Predicting the eye and hair color from genotype became an established and widely used tool in forensic genetics, as well as in studies of ancient human populations. However, the accuracy of this tool has been verified on the West and Central Europeans only, while populations from border regions between Europe and Asia (like Caucasus and Ural) also carry the light pigmentation phenotypes.

Results: We phenotyped 286 samples collected across North Eurasia, genotyped them by the standard HIrisPlex-S markers and found that predictive power in Caucasus/Ural/West Siberian populations is reasonable but lower than that in West Europeans.

[Comparison of clinical-metabolic efficacy of pre- and probiotics in the conducted optimized protocols of eradication therapy of Helicobacter pylori infection].

Unlabelled: Low patient compliance due to the development of adverse events in the form of antibiotic-associated diarrhea (AAD) is considered as the main reason for the failure of the eradication of optimized anti-Helicobacter therapy regimens. A key mechanism for the development of AAD is to reduce the number and species diversity of bacteria that form butyric acid.

Aim: The purpose of this study was to study the comparative effect on the clinical effectiveness of eradication therapy (ET) of Helicobacter pylori infection and metabolic changes in the colon microbiota of additional inclusion in the optimized treatment regimen of the combined prebiotic Zakofalk (inulin + butyrate) with probiotics (lacto- and bifidobacteria in an amount of at least 1017 СFU).

The genetic history of admixture across inner Eurasia.

The indigenous populations of inner Eurasia-a huge geographic region covering the central Eurasian steppe and the northern Eurasian taiga and tundra-harbour tremendous diversity in their genes, cultures and languages. In this study, we report novel genome-wide data for 763 individuals from Armenia, Georgia, Kazakhstan, Moldova, Mongolia, Russia, Tajikistan, Ukraine and Uzbekistan. We furthermore report additional damage-reduced genome-wide data of two previously published individuals from the Eneolithic Botai culture in Kazakhstan (~5,400 BP).