CFAP300 Loss-of-Function Mutations with Primary Ciliary Dyskinesia: Evidence from Ex Vivo and ALI Cultures.

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by impaired mucociliary clearance due to defects in motile cilia. This study investigates the impact of loss-of-function mutations in the gene on the ciliary structure and function in three PCD patients. Using a multimodal approach, we integrated molecular genetic testing, transmission electron microscopy, the high-speed video microscopy assay and immunofluorescence staining to analyze ciliary motility and protein expression in both ex vivo and in vitro-obtained ciliary cells.

Meiotic Arrest and Synaptonemal Complex failure in Infertile Men with Y Chromosome Microdeletions.

Background: The Y chromosome microdeletions are common genetic cause of male infertility. Mechanisms of impaired spermatogenesis and meiosis, as well as phenotypic variability, have not been sufficiently studied.

Objective: The paper provides of results of spermatogenesis and meiotic study based on the analysis of synaptonemal complex (SC) in the spermatocyte nuclei in infertile men with Y chromosome microdeletions.

Meiotic Segregation Analysis in Sperm of a Pericentric Inversion of Chromosome 19 Heterozygous Carrier: Assessment of Recombination Frequency and Genetic Risk.

Introduction: Pericentric inversions (PEIs) are rare intrachromosomal balanced structural abnormalities. To achieve complete synapsis and recombination during meiosis, the pairing of normal and inverted chromosomes requires the formation of an inversion loop. A crossover within this inversion loop leads to the production of two complementary recombinant chromosomes, which may contain both duplicated and deleted segments, including regions distal to the inversion.

Healthcare professionals and scientists' collaboration with biobanks: a pilot study on the assessment of knowledge and attitudes toward biospecimen donation.

Background: Difficulties in the biobank progress are often associated with insufficient public awareness, but it is also worth paying attention to healthcare and science professionals who play an important role in the development of this area. This article presents results of the research on awareness toward biobanking and motivation to collaborate among employees of 3 medical and scientific organizations in Russia.

Methods: The anonymous survey was carried out via an online platform.

Comprehensive semen examination in patients with pancreatic-sufficient and pancreatic-insufficient cystic fibrosis.

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.

Genetics of Oocyte Maturation Defects and Early Embryo Development Arrest.

Various pathogenic factors can lead to oogenesis failure and seriously affect both female reproductive health and fertility. Genetic factors play an important role in folliculogenesis and oocyte maturation but still need to be clarified. Oocyte maturation is a well-organized complex process, regulated by a large number of genes.

The effect of Robertsonian translocations on the intranuclear positioning of NORs (nucleolar organizing regions) in human sperm cells.

Only a few studies have described sperm chromosome intranuclear positioning changes in men with reproductive failure and an incorrect somatic karyotype. We studied the influence of Robertsonian translocations on the acrocentric chromosome positioning in human sperm cells. The basis of the analysis was the localization of NORs (nucleolar organizing regions) in sperm nuclei from three Robertsonian translocation carriers, namely, rob(13;22), rob(13;15) and rob(13;14), with a known meiotic segregation pattern.

Genes associated with testicular germ cell tumors and testicular dysgenesis in patients with testicular microlithiasis.

Testicular microlithiasis (TM) is one of the symptoms of testicular dysgenesis syndrome (TDS). TM is particularly interesting as an informative marker of testicular germ cell tumors (TGCTs). KIT ligand gene (KITLG), BCL2 antagonist/killer 1 (BAK1), and sprouty RTK signaling antagonist 4 (SPRY4) genes are associated with a high risk of TGCTs, whereas bone morphogenetic protein 7 gene (BMP7), transforming growth factor beta receptor 3 gene (TGFBR3), and homeobox D cluster genes (HOXD) are related to TDS.

Global methylation status of sperm DNA in carriers of chromosome structural aberrations.

Male infertility might be clearly associated with aberrant DNA methylation patterns in human spermatozoa. An association between oxidative stress and the global methylation status of the sperm genome has also been suggested. The aim of the present study was to determine whether the global sperm DNA methylation status was affected in the spermatozoa of carriers of chromosome structural aberrations.

A 3-year-old boy with ovotestes: gender reassignment and surgical management.

Objective: We report a male patient with ovotesticular disorder of sex development (OTDSD), resulting from structurally abnormal Y chromosome.

Case Report: A 3-year-old boy was admitted to the Surgical Pediatric Department for masculinizing reconstruction. He had a clitorophallus, bifid scrotum, perineal hypospadias and bilateral impalpable gonads.