Publications by authors named "E V Saifullina"
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
- * 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.
[Amyotrophic lateral sclerosis associated with a new pathogenic variant of the ERBB4 gene].
Zh Nevrol Psikhiatr Im S S Korsakova
August 2024
Amyotrophic lateral sclerosis (ALS) is a sporadic disease in most of the cases; in 10-15% of cases genetic forms are recorded. A genetic form of ALS associated with the mutation in the gene (ALS19) has been reported in 2013. A protein encoded by the is probably involved in ubiquitous component of the pathogenesis of ALS.
View Article and Find Full Text PDFDuring the expanded neonatal screening program conducted in 2023, we analyzed samples obtained from 1,227,130 out of 1,256,187 newborns in the Russian Federation in order to detect 5q spinal muscular atrophy (5q SMA). Within the 253-sample risk group formed based on the results of the first screening stage, 5 samples showed a discrepancy between the examination results obtained via various screening methods and quantitative MLPA (used as reference). The discrepancy between the results was caused by the presence of either a c.
View Article and Find Full Text PDFBackground: This study presents the findings of a newborn screening (NBS) pilot project for 5q-spinal muscular atrophy (5q-SMA) in multiple regions across Russia for during the year 2022. The aim was to assess the feasibility and reproducibility of NBS for SMA5q in diverse populations and estimate the real prevalence of 5q-SMA in Russia as well as the distribution of patients with different number of SMN2 copies.
Methods: The pilot project of NBS here was based on data, involving the analysis of 202,908 newborns.