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Piomboni P.,University of Siena | Piomboni P.,Center for Diagnosis and Treatment of Couple Sterility | Stendardi A.,University of Siena | Gambera L.,University of Siena | Gambera L.,Center for Diagnosis and Treatment of Couple Sterility
Advances in Experimental Medicine and Biology | Year: 2014

Chromosomal abnormalities are relevant causes of human infertility, affecting 2 -14 % of infertile males. Patients with seminal anomalies could be affected by improper meiotic recombination and increased sperm chromosome aneuploidy. Since the transmission of a haploid chromosomal asset is fundamental for embryo vitality and development, the study of sperm chromosomes has become fundamental because intracytoplasmic sperm injection allows fertilization in cases of severe male infertility. In this chapter we summarize the data on the incidence of sperm aneuploidy, detected by fluorescence in situ hybridization (FISH), in infertile men with normal or abnormal karyotype. The possibility of reducing sperm chromosomal imbalance is also reported. Among control males, the lowest aneuploidy rate was detected (range: 0.09 -0.14 % for autosomes; 0.04 -0.10 % for gonosomes). In infertile patients with normal karyotype, the severity of semen alteration is correlated with the frequency of aneuploidy, particularly for X and Y chromosomes. Among patients with abnormal karyotype, 47,XXY and 47,XYY carriers showed a high variability of sperm aneuploidy both for gonosomes and autosomes. In Robertsonian translocation carriers, the increase in aneuploidy rate was particularly evident for total sex disomy, and resulted mainly from interchromosomal effect (ICE). In reciprocal translocation carriers, a high percentage of unbalanced sperm (approximately 50 %) was detected, perhaps mostly related to ICE. Sperm chromosomal constitution could be analyzed to obtain more accurate information about the causes of male infertility. It would be worthwhile to evaluate the benefits of a therapy with recombinant Follicle Stimulating Hormone (rFSH) on sperm chromosome segregation in selected infertile males. © 2014 Springer Science+Business Media New York. Source


Governini L.,University of Siena | Governini L.,Center for Diagnosis and Treatment of Couple Sterility | Orvieto R.,Infertility and IVF Unit | Orvieto R.,Ben - Gurion University of the Negev | And 7 more authors.
Journal of Assisted Reproduction and Genetics | Year: 2011

In an attempt to assess the effect of perfluorinated compounds (PFC) on oocytes quality and fertilization rate, we studied follicular fluid (FF) PFC levels in 18 patients undergoing IVF-ET cycles. A significant correlation (R∈=∈0.75; P∈<∈0.001) was observed between FF PFC levels and fertilization rate. Moreover, patients with FF PFC contamination had significantly lower fertilization rate (p∈<∈0.02) and number of embryos transferred (p∈<∈0.02), compared to the PFC negative group. © 2011 Springer Science+Business Media, LLC. Source


Gambera L.,University of Siena | Gambera L.,Center for Diagnosis and Treatment of Couple Sterility | Morgante G.,University of Siena | Morgante G.,Center for Diagnosis and Treatment of Couple Sterility | And 11 more authors.
Expert Review of Obstetrics and Gynecology | Year: 2011

In this article we aim to summarize the data regarding the incidence of sperm aneuploidy detected by FISH in fertile and infertile men with and without normal karyotype. We analyze and discuss studies relating to FISH analysis in sperm from fertile and infertile men that were published until October 2010. Among the control men, the lowest aneuploidy rate (range: 0.09-0.13% for autosomes; 0.04-0.10% for gonosomes) was detected in the normozoospermic and fertile group. In infertile patients with a normal karyotype, the severity of semen alterations was correlated with the frequency of aneuploidy, particularly of gonosomes. Among patients with abnormal karyotype, the 47,XXY and 47,XYY carriers showed high variability of sperm aneuploidy of gonosomes, while carriers of Robertsonian translocation demonstrated an increased aneuploidy rate, which was mainly related to interchromosomal effect. The reciprocal translocation carriers showed a high percentage of imbalanced spermatozoa (≥50%) and interchromosomal effects were possibly observed. The study of sperm chromosomal constitution is a useful tool that obtains information on the effects of andrological and/or systemic diseases on the chromosomal segregation process, which may aid both fertility specialist counseling and their patients in the decision-making process before offering assisted fertilization techniques for the treatment of male factor infertility. © 2011 Expert Reviews Ltd. Source


Piomboni P.,University of Siena | Piomboni P.,Center for Diagnosis and Treatment of Couple Sterility | Stendardi A.,University of Siena | Stendardi A.,Center for Diagnosis and Treatment of Couple Sterility | And 7 more authors.
Redox Report | Year: 2012

Objective: Our study aims to assess the oxidative stress status of seminal plasma from normozoospermic, azoospermic, and leukocytospermic males, since abnormal sperm and leukocytes in human ejaculates are the main source of reactive oxygen species (ROS) which lead to oxidative damages. For this purpose we applied a biochemical approach to the assessment of the oxidative stress status by using twodimensional (2D) electrophoresis to check the level of protein oxidation after specific labeling of free thiol (-SH) groups. Methods: Seminal plasma samples from normal and pathological males were analyzed by a luminol-based chemiluminescent assay. The same samples after specific labeling of free -SH groups with 3-Nmaleimidopropionyl biocytin, were analyzed by 2D electrophoresis and computer-assisted semiquantitative determination of the amount of free -SH groups. Results: Using a standard chemiluminescence assay, we demonstrated a high, low and normal level of ROS, respectively, in seminal plasma from leukocytospermic, azoospermic, and normozoospermic subjects. By 2D electrophoresis and streptavidin blotting of specifically labeled free -SH groups of proteins, we detected in the same samples a higher level of oxidated -SH groups comparable between azoospermic and leukocytospermic samples, whereas a significantly higher level of free -SH groups was detected in normozoospermic subjects. Discussion: Our results demonstrated that a pathological oxidative stress status in seminal plasma may be revealed by the levels of the protein free -SH groups, both in the presence or absence of cells. © W.S. Maney & Son Ltd 2012. Source


Governini L.,University of Siena | Governini L.,Center for Diagnosis and Treatment of Couple Sterility | Guerranti C.,University of Siena | De Leo V.,University of Siena | And 10 more authors.
Andrologia | Year: 2015

This study investigated chromosomal aneuploidies and DNA damage in spermatozoa from male patients contaminated by perfluorinated compounds (PFCs) in whole blood and seminal plasma. Sperm aneuploidy and diploidy rate for chromosomes 18, X and Y were evaluated by FISH; sperm DNA fragmentation was assessed by terminal deoxynucleotidyl transferase-mediated dUTP nick end-labelling technique coupled to flow cytometry. Our results indicated that PFC contamination was present in 58% of subjects included in the study. A significant increase in alterations of sperm parameters was observed in PFC-positive subjects compared to PFC-negative subjects. As regards the sperm aneuploidy, both disomy and diploidy rates resulted significantly increased in subjects positive for PFC contamination compared to PFC-negative samples. In addition, sperm DNA fragmentation index resulted significantly increased in PFC-contaminated subjects compared to PFC-non-contaminated subjects, with a significant increased level of dimmer DNA fragmentation index. Our results clearly indicate that PFC contamination may detrimentally affect spermatogenesis, disturbing both meiotic segregation and DNA integrity. We could therefore suggest cautions to reduce or eliminate any contact with these compounds because the long-term effects of PFC accumulation in the body are not predictable. © 2014 Blackwell Verlag GmbH. Source

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