Publications by authors named "R Zinchenko"
Introduction: GNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. A founder effect has been demonstrated for some patients from several large cohorts in different countries.
Methods: In this study, we investigated the allele frequency of the c.
Article Synopsis
- * The study identified 233 genetic variants in Russian patients, including 47 that are not found in international databases, with a notable prevalence of severe and distinct mutations compared to global populations.
- * With the introduction of CFTR modulator therapy for patients under 19, the research highlights the importance of genetic testing for personalized treatment, showing differences in patient profiles compared to European registries.
Article Synopsis
- * A pilot screening program in Russia analyzed 202,908 newborns, finding 157 with trisomy 21, indicating a birth prevalence of 1:1,284, and explored their lymphocyte levels (TREC and KREC).
- * Results showed reduced TREC values in DS newborns, similar to extremely preterm infants, and significant KREC differences from the general newborn population, highlighting the need for deeper research into immune development in DS and better support from healthcare teams.
oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form of albinism is autosomal recessive albinism, caused by mutations in the gene, accounting for approximately 40-50% of all cases of the disease in European populations. Common hypomorphic variants in the gene could lead to a mild form of albinism in a compound heterozygous state with a pathogenic variant.
View Article and Find Full Text PDFBackground/objectives: Knobloch syndrome 1 (KS) is an autosomal recessive inherited ocular syndrome characterized by a combination of high myopia, vitreoretinal degeneration, and occipital encephalocele. KS is caused by biallelic pathogenic variants in the gene. Diagnosing KS can be challenging due to its clinical heterogeneity and the rarity of the syndrome.
View Article and Find Full Text PDF