BACKGROUND The genetic basis of nonobstructive azoospermia is unknown in the majority of infertile men. METHODS We performed array comparative genomic hybridization testing in blood samples obtained from 15 patients with azoospermia, and we performed mutation screening by means of direct Sanger sequencing of the testis-expressed 11 gene (TEX11) open reading frame in blood and semen samples obtained from 289 patients with azoospermia and 384 controls. RESULTS We identified a 99-kb hemizygous loss on chromosome Xq13.2 that involved three TEX11 exons. This loss, which was identical in 2 patients with azoospermia, predicts a deletion of 79 amino acids within the meiosis-specific sporulation domain SPO22. Our subsequent mutation screening showed five novel TEX11 mutations: three splicing mutations and two missense mutations. These mutations, which occurred in 7 of 289 men with azoospermia (2.4%), were absent in 384 controls with normal sperm concentrations (P = 0.003). Notably, five of those TEX11 mutations were detected in 33 patients (15%) with azoospermia who received a diagnosis of azoospermia with meiotic arrest. Meiotic arrest in these patients resembled the phenotype of Tex11-deficient male mice. Immunohistochemical analysis showed specific cytoplasmic TEX11 expression in late spermatocytes, as well as in round and elongated spermatids, in normal human testes. In contrast, testes of patients who had azoospermia with TEX11 mutations had meiotic arrest and lacked TEX11 expression. CONCLUSIONS In our study, hemizygous TEX11 mutations were a common cause of meiotic arrest and azoospermia in infertile men. (Funded by the National Institutes of Health and others.)

Evidence has been accumulating that individual chromosomes in human sperm cells occupy defined, non-random positions. Our earlier study suggested that abnormal spermatogenesis in carriers of reciprocal translocations was reflected in the changes in the intranuclear topology of sperm chromosomes. The purpose of this study was to determine whether the increased level of disomy of sperm chromosomes may be the factor that can disturb topology within the sperm nuclei. The results obtained indicated that within the sperm nuclei of fertile individuals the centromeres of chromosomes 15, 18, X and Y were localized in a small area that may be a fragment of the chromocentre. When compared with the intranuclear positions of the same chromosomes in sperm nuclei of infertile patients with an increased level of aneuploidy, some disturbances in the centromere area were found. In disomic sperm cells (n + 1) centromeres 15,15 or 18,18 or YY (but not X,X) had a shifted average longitudinal position in comparison with normal sperm cells (n = 23).

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Background Genetic causes that lead to spermatogenetic failure in patients with nonobstructive azoospermia (NOA) have not been yet completely established. Objective To identify low‐frequency NOA‐associated single nucleotide variants (SNVs) using whole‐genome sequencing (WGS). Materials and methods Men with various types of NOA (n = 39), including samples that had been previously tested with whole‐exome sequencing (WES; n = 6) and did not result in diagnostic conclusions. Variants were annotated using the Ensembl Variant Effect Predictor, utilizing frequencies from GnomAD and other databases to provide clinically relevant information (ClinVar), conservation scores (phyloP), and effect predictions (i.e., MutationTaster). Structural protein modeling was also performed. Results Using WGS, we revealed potential NOA‐associated SNVs, such as: TKTL1, IGSF1, ZFPM2, VCX3A (novel disease causing variants), ESX1, TEX13A, TEX14, DNAH1, FANCM, QRICH2, FSIP2, USP9Y, PMFBP1, MEI1, PIWIL1, WDR66, ZFX, KCND1, KIAA1210, DHRSX, ZMYM3, FAM47C, FANCB, FAM50B (genes previously known to be associated with infertility) and ALG13, BEND2, BRWD3, DDX53, TAF4, FAM47B, FAM9B, FAM9C, MAGEB6, MAP3K15, RBMXL3, SSX3 and FMR1NB genes, which may be involved in spermatogenesis. Discussion and conclusion In this study, we identified novel potential candidate NOA‐associated genes in 29 individuals out of 39 azoospermic males. Note that in 5 out of 6 patients subjected previously to WES analysis, which did not disclose potentially causative variants, the WGS analysis was successful with NOA‐associated gene findings.

P-bodies (processing bodies) are observed in different organisms such as yeast, Caenorhabditis elegans and mammals. A typical eukaryotic cell contains several types of spatially formed granules, such as P-bodies, stress granules and a variety of ribonucleoprotein bodies. These microdomains play important role in mRNA processing, including RNA interference, repression of translation and mRNA decay. The P-bodies components as well as stress granules may play an important role in host defense against viral infection. The complete set of P-bodies protein elements is still poor known. They contain conserved protein core limited to different organisms or to stress status of the cell. P-bodies are related also to some neuronal mRNA granules as well as to maternal RNA granules or male germ cell granules. In this mini-review, we focus on the structure of P-bodies and their function in the mRNA utilization and processing because of the high mRNA's dynamics between different cellular compartments and its key role in modulation of gene expression.

Obesity is a growing health, social, and economic issue and became an epidemic, according to recent report of World Health Organization.The only method with scientifically proved efficiency of body mass loss is a surgical treatment. Laparoscopic sleeve gastrectomy (LSG) is recently a leading method in metabolic surgery. There are no standards of operative technique for LSG so far. The influence of technique modification on metabolic effect has not been described clearly.The aim of this study was to evaluate metabolic effects in patients with morbid obesity who underwent various surgical approaches of LSG.The study included 120 patients who were randomly divided into 3 groups: Group I, where bougie size was 32 French (Fr), Group II—36 Fr and Group III—40 Fr. Each group was divided into 2 subgroups, based on the distance of resection beginning from the pylorus—2 or 6 cm. Statistical analysis of: body mass index (BMI), the Percentage of Excess Weight Loss (%EWL), the Percentage of Excess BMI Loss (%EBMIL), levels of glucose and insulin on an empty stomach, glycated hemoglobin (HbA1c), insulin resistance (Homeostatic Model Assessment of Insulin Resistance Index—HOMA-IR), aspartate transaminase (AST), alanine transaminase (ALT), total cholesterol, high-density lipoprotein (HDL), low-density lipoprotein (LDL), triglycerides (TG), and C-reactive protein (CRP) were under investigation.Statistically significant decrease in body mass, BMI, %EWL, %EBL, glucose, and insulin concentrations has been observed in all studied groups. It was the highest when the smallest calibration tube has been used (32 Fr). Similar results were observed in HOMA-IR and HbA1c levels. Statistically significant decrease of total cholesterol, LDL, and TG concentrations have been observed. Significant increase of HDL in every group has been also noted. Postoperative CRP values were the lowest when the smallest bougie was used.LSG is effective method of obesity treatment. Metabolic effects of LSG are the most noticeable when a small bougie size is used.