Publications by authors named "Aleksander V Polyakov"
Article Synopsis
- - Male infertility, particularly linked to poor semen quality, is found in roughly 50% of infertile couples, with specific CFTR gene variants being common causes of azoospermia.
- - This study analyzed the allele frequency of 12 CFTR variants in fertile and infertile men across different regions of Russia, using data from a CF patient registry and local biocollections.
- - Findings revealed significant regional differences in CFTR variant frequencies, confirming that certain variants like F508del and CFTRdele2,3(21kb) are more prevalent in infertile patients compared to healthy individuals, highlighting the need for genetic monitoring in Russian populations.
We examined a cohort of 93 cystic fibrosis (CF) male patients who were pancreatic-sufficient (PS-CF; n=40) or pancreatic-insufficient (PI-CF; n = 53). Complex semen examination was performed, including standard semen analysis, quantitative karyological analysis (QKA) of immature germ cells (IGCs), transmission electronic microscopy (TEM), biochemical analysis, and sperm DNA fragmentation by terminal deoxynucleotidyl transferase-mediated dUTP nickend labeling (TUNEL) assay. Azoospermia was diagnosed in 83 (89.
View Article and Find Full Text PDFA timely detection of patients with tetrahydrobiopterin (BH4) -deficient types of hyperphenylalaninemia (HPABH4) is important for assignment of correct therapy, allowing to avoid complications. Often HPABH4 patients receive the same therapy as phenylalanine hydroxylase (PAH) -deficiency (phenylketonuria) patients-dietary treatment-and do not receive substitutive BH4 therapy until the diagnosis is confirmed by molecular genetic means. In this study, we present a cohort of 30 Russian patients with HPABH4 with detected variants in genes causing different types of HPA.
View Article and Find Full Text PDFPhenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). Furthermore, numerous studies on BH4-sensitive PAH deficiency have been conducted. To date, BH4, a cofactor of PAH, has not been used to treat PKU in Russia.
View Article and Find Full Text PDFPhenylketonuria is an inherited disease caused by mutations in the phenylalanine hydroxylase gene PAH. Different PAH pathogenic variants occur in different ethnic groups with various frequencies and the incidence of the disease itself varies from country to country. In the Caucasus region of Russia, some ethnoses are geographically and culturally isolated from each other.
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