Objective: To investigate the potential association of Y chromosome microdeletions with idiopathic recurrent spontaneous abortion (IRSA) in a Slovenian population and compare our results with those of previously published studies in different populations, with the intention of clarifying the potential impact of Y chromosome microdeletions on IRSA. Design:Case–control and association study. Setting:Departments of gynecology and obstetrics and university-based research laboratory. Patient(s): Male partners of 148 couples with at least three spontaneous pregnancy losses of unknown etiology, and 148 fertile men. Intervention(s): Multiplex polymerase chain reactions. Main Outcome Measure(s): Azoospermia factor (AZF) regions were tested for Y chromosome microdeletions according to European Academy of Andrology/European Molecular Genetics Quality Network guidelines. The PubMed database was searched to retrieve articles linking Y chromosome microdeletions and susceptibility to IRSA. Result(s): None of the IRSA or control men had microdeletions in the AZFa, AZFb, or AZFc regions. A total of nine previous studies examined the relationship between Y chromosome microdeletions and IRSA, yielding contradictory results, which we discuss in detail. Conclusion(s): On the basis of our comparisons, it is unlikely that Y chromosome microdeletions contribute to IRSA and are therefore currently not recommended for the routine evaluation of IRSA couples.
COBISS.SI-ID: 677548
OBJECTIVE: The insulin-like growth factor 2 (IGF2) and its receptor (IGF2R) are important regulators of placental function and fetal growth. Our aim was to investigate the association between IGF2R gene Gly1619Arg G)A polymorphism and recurrent spontaneous abortion (RSA). METHODS:Polymerase chain reaction and restriction fragment length polymorphism methods were performed to identify the genotypes in 149 couples with a history of at least three consecutive spontaneous abortions and 149 age-matched, unrelated, and fertile couples. RESULTS:There were no statistically significant differences in genotype or allele frequency among the couples with RSA and healthy controls. CONCLUSIONS:We found no evidence that the IGF2R Gly1619Arg variation is associated with RSA.
COBISS.SI-ID: 685740
Idiopathic recurrent spontaneous abortion (IRSA) has been associated with abnormalities in the remodelling of endometrial extracellular matrix, as well as aberrant matrix metalloproteinase (MMP) gene expression in endometrium of IRSA women and chorionic villi of IRSA concept. This study investigated the association of five functional MMP gene promoter polymorphisms (MMP1 -1607 1G/2G, MMP2 -735 C/T, MMP2 -1306 C/T, MMP3 -1612 5A/6A and MMP9 -1562 C/T) with IRSA. A total of 149 couples with at least three consecutive IRSA and 149 fertile couples were included in a case-control study. Genotype analysis was performed using PCR restriction fragment length polymorphism. Statistically significant differences were found in distributions of MMP2 -735 CT (chi-squared 10.21, P=0.006; OR 2.15, 95% CI 1.34-3.45, P=0.001), and MMP9 -1562 CC (chi-squared 9.06, P=0.010; OR 2.21, 95% CI 1.30-3.80, P=0.004) between IRSA women and controls. Combined analysis of MMP gene polymorphisms did not increase their predictive value. There were no statistically significant differences in genotype and allele frequencies of any polymorphism between IRSA men and controls. MMP2 -735 C/T and MMP9 -1562 C/T functional gene polymorphisms might be associated with an increased risk of IRSA in women.
COBISS.SI-ID: 678060
Introduction and hypothesis Limitations of the existing treatment methods for stress urinary incontinence (SUI) have encouraged investigation of new therapeutic approaches in the field of regenerative medicine. Enabled by tissue engineering technology safety, feasibility and efficacy of ultrasound-guided intrasphincteric autologous myoblast implantation to treat SUI presented in the accompanying video were assessed in a pilot study of 38 women. Methods Following upper arm muscle biopsy, autologous myoblast suspension was injected into the extrinsic urethral sphincter under transurethral ultrasound visualization. Functional electrical stimulation (FES) was used postoperatively to possibly enhance cell integration. Objectiveand subjective parameters were compared at 6 weeks, 3 months, and 6 months postoperatively. Results The tissue harvest, laboratory tissue processing, and myoblast implantation were successful in all 38 patients. No serious adverse events were reported through the course of the study. Objective and subjective measurements collected at baseline were significantlyimproved at 6 weeks postoperatively. Additional improvement or a plateau was observed at 3 and 6 months postoperatively, not being negatively influenced by discontinuation of FES. Of the patients, 23.7 % considered theirSUI cured, and 52.6 % reported improvement at 6 months; 95 % would recommend this treatment to others. Conclusions Intrasphincteric ultrasound-guided autologous myoblast injection for SUI is feasible. This simple to perform and well-tolerated minimally invasive procedure safely produced promising initial results.
COBISS.SI-ID: 677292
We describe the potential stemness of a small amount of frozen-thawed testicular tissue without sperm obtained by biopsy from six patients undergoing assisted reproductive treatment. The patients were diagnosed with Sertoli Cell-Only Syndrome alone or combined with maturation arrest. Trying toprovide the natural stem cell niche for cultured stem cells, all isolated cells from enzymatically degraded biopsies where cultured together in different culture media and the presence of putative mesenchymal and putative pluripotent ES-like stem cells was indicated using different methods. High throughput real-time quantitative PCR followed by multivariate analysis revealed the formation of distinct cell clusters reflecting high degree of similarity and some of these cell clusters expressed the genes characteristic for pluripotent stem cells. In the presence of the follicular fluid, prepared as serum, putative testicular stem cells showed a certain degree of plasticity, and spontaneously differentiated into adipose-like and neuronal-like cells. Additionally, using differentiation protocols putative testicular stem cells were differentiated into neuronal- and pancreatic-like cells. This study shows that in assisted reproduction programmes, testicular tissue with no sperm might be an important source of stem cells, although it is discarded in daily medical practice; this requires further research.
COBISS.SI-ID: 29674201