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Albano Laziale, Italy

Aston K.I.,University of Utah | Krausz C.,University of Florence | Laface I.,University of Florence | Ruiz-Castane E.,Andrology Service | Carrell D.T.,University of Utah
Human Reproduction

Background In spite of tremendous efforts by a number of groups, the search for single nucleotide polymorphisms (SNPs) strongly associated with male factor infertility by means of gene re-sequencing studies has yielded few likely candidates. A recent pilot, genome-wide SNP association study (GWAS) identified a list of SNPs associated with oligozoospermia and azoospermia. This is an expanded follow-up study of the SNPs identified by the GWAS as well as other SNPs from previously published gene re-sequencing studies. Methods On the basis of the pilot GWAS and SNPs with published associations with male infertility, 172 SNPs were genotyped in men with idiopathic azoospermia or oligozoospermia using the Illumina BeadXpress® platform. Result SSeveral SNPs were identified or confirmed to be significantly associated with oligozoospermia and/or azoospermia. More importantly, this follow-up study indicates that, at least in Caucasian men, no single common SNP accounts for a significant proportion of spermatogenic failure cases. Conclusions The associations reported in this study are promising, but much larger genome-wide studies will be necessary to confidently validate these SNPs and identify novel SNPs associated with male infertility. © The Author 2010. Source

Paulis G.,Andrology Service | D'Ascenzo R.,Complex Operative Unit of Urology | Nupieri P.,Complex Operative Unit of Urology | De Giorgio G.,Jewish Hospital | And 3 more authors.
International Journal of Andrology

A total of 151 patients (age: 24-74years, mean: 55±10.3) diagnosed with Peyronie's disease were enrolled in a non-surgical treatment. In addition to medical histories and physical examinations, all patients underwent the following tests: penile ultrasound, IIEF questionnaire and photographic documentation. The penile curvature was measured by taking a photograph during maximum erection. All 151 patients were treated at different times and with different combinations of drugs, and afterwards, they were clinically studied and divided into five different treatment groups: 1st=verapamil (injection+iontophoresis)+vitamin E+topical diclofenac+blueberries; 2nd=verapamil (injection+iontophoresis)+vitamin E+topical diclofenac+propolis; 3rd=verapamil (injection)+vitamin E+topical Diclofenac; 4th=verapamil (iontophoresis)+vitamin E+topical diclofenac; 5th=verapamil (injection+iontophoresis)+topical diclofenac+blueberries+propolis. All patients were treated for 6months after which they underwent the same follow-up tests as performed prior to the treatment. The following was achieved: group 1 had the most reduction in plaque size (-66.4%; p=0.000), group 2 obtained the highest rate where penile curvature disappeared (24.5%; p=0.019); the best results with reference to decrease in curvature angle were reached by the 2nd group (-14°) and group 1 obtained -9.6° (p=0.000). © 2011 The Authors. International Journal of Andrology © 2011 European Academy of Andrology. Source

The medical treatment is indicated in the development stage of Peyronie's disease (PD) for at least 1 year after diagnosis and whenever in case of penile pain. This research was conducted to demonstrate the possible effectiveness of vitamin E in PD treatment, whereas in the scientific literature this topic is much discussed. A total of 70 patients (age:26-69 years, mean: 54.1 ± 9.71) diagnosed with PD were enrolled in a conservative treatment. In addition to medical histories and physical examinations all patients underwent the following tests: International Index of Erectile Function (IIEF) questionnaire, penile ultrasound and photographic documentation, pain evaluation by a conventional 10-point pain scale Visual analogue pain scale (VAS). All 70 patients were divided into two different treatment groups: A and B, with different combinations of drugs: A = vitamin E + verapamil (injection + iontophoresis) + blueberries + propolis + topical diclofenac; B = verapamil (injection + iontophoresis) + blueberries + propolis + topical diclofenac. All patients were treated for 6 months after which they underwent the same follow-up tests as performed prior to the treatment. Intergroup analysis revealed statistically significant differences: in the vitamin E group the effective plaque size reduction was -50.2% whereas in the control group the reduction was -35.8% (p = 0.027). In group A the improvement of curvature occurred in 96.6% of the cases whereas in the control group B this occurred in 48.4% (p = 0.0001), moreover, the mean curvature decrease was respectively -12.25° and -6.73° (p = 0.01). IIEF score was significantly improved in group A patients with comorbidities and erectile dysfunction (p = 0.025). Increase in plaque size occurred only in the control group (17.1%) (p = 0.032). We can affirm that vitamin E can help to prevent the progression of PD. This study strongly supports the recommendation that the best approach for treating PD is multimodal therapy. © 2012 American Society of Andrology and European Academy of Andrology. Source

Terribas E.,Medical and Molecular Genetics Center | Terribas E.,Institute Of Medicina Predictiva I Personalitzada Del Cancer Imppc | Bonache S.,Medical and Molecular Genetics Center | Garcia-Arevalo M.,Medical and Molecular Genetics Center | And 5 more authors.
Journal of Andrology

DNA mismatch repair (MMR) genes have been described to participate in crossover events during meiotic recombination, which is, in turn, a key step of spermatogenesis. This evidence suggests that MMR family gene expression may be altered in infertile men with defective sperm production. In order to determine the expression profile of MMR genes in impaired human spermatogenesis, we performed transcript levels analysis of MMR genes (MLH1, MLH3, PMS2, MSH4, and MSH5), and other meiosis-involved genes (ATR, HSPA2, and SYCP3) as controls, by real-time reverse transcription-polymerase chain reaction in testis from 13 patients with spermatogenic failure, 5 patients with primary germ cell tumors, and 10 controls with conserved spermatogenesis. Correlation of the expression values with the histological findings was also performed. The MMR gene expression values, with the exception of PMS2, are significantly decreased in men with spermatogenic failure. The pattern of MMR reduction correlates with the severity of damage, being maximum in maturation arrest. Specifically, expression of the testicular MSH4 gene could be useful as a surrogate marker for the presence of intratesticular elongated spermatid in patients with nonobstructive azoospermia, contributing to predict the viability of assisted reproduction. Interestingly, a reduction in the MSH4 and MSH5 transcript concentration per spermatocyte was also observed. The decreased expression level of other meiosis-specific genes, such as HSPA2 and SYCP3, suggests that the spermatocyte capacity to express meiosis-related genes is markedly reduced in spermatogenic failure, contributing to meiosis impairment and spermatogenic blockade. Copyright © American Society of Andrology. Source

Natali I.,Sterility Center | Simi S.,Andrology Service | Cipriani S.,Sterility Center | Cipriani S.,University of Milan | And 4 more authors.
Journal of Andrological Sciences

Objective: Aim of this study was to evaluate the relation between Type A spermatozoa motility in ejaculate of treated infertile men and incidence of pregnancy achieved with artificial insemination. Materials and methods. 72 infertile males from couples with only male infertility, were included in the study. Seminal fluid was assayed according to the World Health Organization guidelines and semen was prepared through gradient density for insemination. Couples were followed to evaluate pregnancy occurrence. Four categories of Type A spermatozoa were identified: first = 0-10%, second = 11-30%, third = 31-50% and fourth = 51-100%. Data were analyzed using the logistic regression model to estimate the relative risk (RR). Results. Pregnancy rates in the four Type A spermatozoa categories were: 11.8% (SE = 7.8), 45.0% (SE = 11.1), 26.7% (SE = 11.4) and 30.0% (SE = 10.3). Using the first Type A spermatozoa category as reference, the second category was significantly different in pregnancy incidence (RR = 6.14, p-value = 0.0385), but no difference emerged in the third and fourth category (RR = 2.7, p-value = 0.2924 and RR = 3.2, p-value = 0.1931). Conclusions. This study shows that having Type A spermatozoa percentage lower than 10% is an unfavorable factor, whereas the highest number of pregnancies occurred with spermatozoa in the 11-30% category. Further percentage increase of Type A spermatozoa did not improve the pregnancy rate. Notwithstanding the little sample size, these data suggest that a significant relation exists between Type A spermatozoa in the ejaculate and pregnancy rate. Source

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