Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12.

We generated two human induced pluripotency stem cell (hiPSC) lines, RCMGi011-A and 11-B, from skin fibroblast from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12 using non-integrating, viral CytoTune™-iPS 2.0 Sendai Reprogramming Kit. We verified variant c.808 T > G and insertion in GLB1 gene, as well as two mutations, c.6992 T > C and c.805C > T, in CDH23 gene which lead to autosomal recessive hearing loss type 12. We have demonstrated normal karyotype of hiPSCs and capacity for cell differentiation into three germ layers.

Accumulation of Circulating Cell-Free CpG-Enriched Ribosomal DNA Fragments on the Background of High Endonuclease Activity of Blood Plasma in Schizophrenic Patients.

INTRODUCTION: Schizophrenia (SZ) increases the level of cell death, leading to an increase in the concentration of circulating cell-free DNA (cfDNA). Ribosomal DNA (rDNA) contains many unmethylated CpG motifs that stimulate TLR9-MyD88-NF-κB signaling and the synthesis of proinflammatory cytokines. The number of rDNA copies in the genomes of SZ patients is increased; therefore, we expect that the concentration of cell-free rDNA in the plasma of the SZ patients also increases. This may be one of the explanations of the proinflammatory cytokine increase that is often observed in SZ. The major research question is what is the rDNA copy number in cfDNA (cf-rDNA CN) and its putative role in schizophrenia? Materials and Methods. We determined cfDNA concentration (RNase A/proteinase K/solvent extraction; fluorescent dye PicoGreen) and endonuclease activity (NA) of blood plasma (radial diffusion method) in the untreated male SZ group (N = 100) and in the male healthy control group (HC) (N = 96). Blood leukocyte DNA and cfDNA rDNA CN were determined with nonradioactive quantitative hybridization techniques. Plasma concentration of cf-rDNA was calculated. RESULTS: In the subjects from the SZ group, the mean cfDNA plasma concentration was twofold higher and NA of the plasma was fourfold higher than those in the healthy controls. rDNA CN in the blood leukocyte genome and in the cfDNA samples in the SZ group was significantly higher than that in the HC group. cf-rDNA concentration was threefold higher in the SZ group. CONCLUSION: Despite the abnormally high endonuclease activity in the blood plasma of SZ patients, the circulating cfDNA concentration is increased. Fragments of cf-rDNA accumulate in the blood plasma of SZ patients. Potentially, SZ patients' cfDNA should be a strong stimulating factor for the TLR9-MyD88-NF-κB signaling pathway.

[HIV infection risk perception and stigmatizing attitude: Results of surveys of dwellers from the Central Administrative District of Moscow].

AIM: To study human immunodeficiency virus (HIV) infection risk perception and stigmatizing attitudes in the dwellers of the Central Administrative District of Moscow. SUBJECTS AND METHODS: An anonymous survey was conducted using specially developed questionnaires. A total of 893 people were interviewed. Each of the given indicators was used to ask 98 to 254 respondents. Among the survey participants, there were 92 healthcare workers, including 66 physicians and 26 representatives of middle-level and junior medical staff. According to their replies, the respondents were divided into 2 groups: 1) healthcare workers; 2) representatives of the so-called general population. RESULTS: 91.3% of the healthcare workers gave a negative reply to the question: "Should contacts (intercourse) with people living with HIV (AIDS) be avoided to escape infection?". In Group 2, 58.8 and 23.5% of the respondents answered negatively and positively, respectively; and 17.6% had difficulty answering the question. In the general population group, 44.10% of the respondents answered negatively and 32.2% had difficulty answering the question: "Would you agree to live in the same room with anybody whom you know or suspect to be HIV positive?"; 23.8% agreed to do this. Among the healthcare workers, there were 46.7% of the respondents who answered positively. When the question: "Would you agree to send your child (grandson) to the kindergarten if you would learn that a HIV-infected child goes there?" was asked, 48.6 and 18.7% of the respondents in the general population group answered negatively and positively, respectively; 32.7% had difficulty answering. In the group of healthcare workers, 66.7% answered positively. Among both the healthcare workers and the representatives of the general population, more than 60% of the respondents agreed with the statement that "HIV-infected people lead a loose life". CONCLUSION: The specific features of perceiving a HIV infection risk and showing stigmatizing attitudes towards HIV-infected patients make the forming less dangerous behaviors difficult and restrict an access to care and support in infected patients. The training of healthcare workers in issues related to HIV infection should involve the identification of stigmatizing attitudes and the application of destigmatization strategies.