Genetic Landscape of Nephropathic Cystinosis in Russian Children.

Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the CTNS gene. The analysis methods are as follows: tandem mass spectrometry to determine the cystine concentration in polymorphonuclear blood leukocytes, Sanger sequencing for the entire coding sequence and flanking intron regions of the CTNS gene, multiplex PCR to detect a common mutation-a 57 kb deletion, and multiplex ligation-dependent probe amplification to analyze the number of exon copies in the CTNS gene. Haplotype analysis of chromosomes with major mutations was carried out using microsatellite markers D17S831, D17S1798, D17S829, D17S1828, and D17S1876. In this study, we provide clinical, biochemical, and molecular genetic characteristics of 40 Russian patients with mutations in the CTNS gene, among whom 30 patients were selected from a high-risk group of 85 people as a result of selective screening, which was carried out through cystine concentration measurement in polymorphonuclear blood leukocytes. The most common pathogenic variant, as in most described studies to date, was the 57 kb deletion, which represented 25% of all affected alleles. Previously non-described variants represented 22.5% of alleles. The founder effect in the Karachay and Chechen ethnic groups was shown for the following major variants: c.1015G > A and c.518A > G.

Pattern of changes in clinico-immunological indicators of patients with drug allergy during treatment with autologous blood.

An efficient method for the treatment of drug allergy was proposed and practically implemented. The method consists in autologous venous blood being lyzed with sterile bidistilled water at a ratio of 5:1 and injected subcutaneously and partially intradermally into the reflexogenic zones of the back 2-3 cm from the spinal column. During the first week of treatment, increasing doses were injected (3 to 10 ml), whereas during the second week the doses decreased from 10 to 3 ml. Following treatment the patients felt better and featured enhanced working ability as well as markedly declined susceptibility to common colds. The most informative immunological indicators were chosen to evaluate the efficiency of therapy.