Semen analysis of subfertility caused by testicular carcinoma

Background: Infertility is a common problem in testicular cancer. Affected men often decide to undergo sperm banking before chemo/radiotherapy. The cumulative effects of therapy can considerably reduce fertility. Objective: Testicular cancers impair fertilizing ability, even before diagnosis. This study tries to verify individual traits and semen quality in patients with testicular cancer. Materials and Methods: This observational study analyzed 190 semen of patients with testicular cancer (16 to 47 yr old) referred to the sub-fertility laboratory at the St. Mary hospital for semen banking prior to treatment carcinoma. Several aspects of their semen analyses were examined. The cases were divided into four different categories: seminoma, teratoma, mixed germ cell tumors and others. Results: The results showed that 23 cases were azoospermic, and 13 of the patients who were not azoospermic, their sperm of “normal” morphology were too few to count. Among patients that could produce spermatozoa, 59.4% had a sperm concentration of < 20 × 106/ml. The mean of “motility excellent” and “sluggish” taken together in all the cases was 47.2%. More than 92% of the patients had an abnormal morphology. The morphology of sperm is the most sensitive semen parameter that is affected by testicular carcinoma. Conclusion: Abnormal spermatogenesis is seen in most patients with testicular cancer before treatment with radiation, chemotherapy, or surgery. The causes of poor semen quality in cancer patients are not well-understood, but the patients with impaired spermatogenesis should have precise examination to find out the correct diagnosis of problem and preserve the fertility before any treatment. Key words: Infertility, Testicular cancer, Semen analyses, Spermatogenesis

Central and Peripheral Cornea and Corneal Epithelium Characterized Using Optical Coherence Tomography and Confocal Microscopy

Abstract Both in the closed and open eye state the superior limbus is covered by the upper lid. This region is of physiological interest and clinical importance because in chronic hypoxia, neovascularization of the cornea commonly occurs here. The limbal region in general is additionally of importance as the stem cells which are the source of the new corneal cells are located in the epithelium of the limbus and these are vital for normal functioning and are affected under certain adverse conditions. Purpose: In this experiment I examined corneal morphology in the limbal area and in particular under the upper lid in order to primarily examine the variation in the corneal limbal epithelial and total thickness as well as epithelial and endothelial cell density. Methods: I measured 30 eyes OD/OS (chosen randomly) of thirty healthy subjects aged from 18 to 55 years in the first study and twelve participants in the second study, with refractive error ≤ ±4 D and astigmatism ≤ 2 D. The thickness and cell density of five positions: superior, inferior, temporal, nasal limbal and central cornea was determined with optical coherence tomography (OCT) and confocal microscopy. At least three scans of each position were taken in both studies with OCT. At least 40 of 100 adjacent sagittal scans of each image were measured using OCT software program. In the confocal study, image J software was used to determine cell densities. Results: The epithelial and corneal limbal thickness were significantly thicker than the epithelial and central corneal thickness (p<0.05). The limbal, inferior cornea is thinner than the three other positions and the temporal region of the cornea is the thickest both in epithelial and total cornea. Epithelial cell density was significantly lower in the superior cornea than the four other positions. There was no significant difference in the endothelial cell density. Conclusions: Using OCT with high resolution and cross-sectional imaging capability and confocal microscope with high magnification, I found that the limbal cornea is significantly thicker than the central cornea both in total and in epithelial thickness. In the limbus, one might expect the superior cornea (under the lid) to be thickest (because of the expected hypoxia) whereas I found the temporal cornea was thickest. The epithelial cell density was lower in the superior cornea but there was no significant difference in cell densities in the endothelium. Further morphological investigation is of interest

Male factor testing in recurrent pregnancy loss cases: A narrative review

Recurrent pregnancy loss is a distinct disorder defined as the loss of at least 2 pregnancies before the 20th wk of gestation. With half of the genome of the embryo belonging to the father, the integrity of the sperm genome is crucial for a successful pregnancy. Semen analysis is recommended for men in such cases to evaluate sperm concentration, morphology, vitality and motility. However, other important sperm parameters such as sperm epigenetics, aneuploidy, Y chromosome microdeletion and chromatin integrity also correlate with successful pregnancy and delivery rate. This article examines the use of different sperm tests and their importance in male partners of women suffering from recurrent pregnancy loss. Key words: DNA fragmentation, Sperm, Y chromosome, Recurrent pregnancy loss

Association of cytotoxic T-lymphocyteassociated protein 4 polymorphisms with recurrent pregnancy loss: A case-control study

Background: A large proportion of cases of recurrent pregnancy loss (RPL) are associated with immunological factors. Objective: This study investigated the association between single nucleotide polymorphisms of cytotoxic T lymphocyte-associated protein (CTLA)-4 gene in women with a history of RPL compared to healthy women. Materials and Methods: A case-control study was performed on 2 groups consisting of 120 healthy women with no history of abortion and at least one delivery (control) and 120 women with a history of 2 or more primary RPLs (case). In addition, 5 mL of peripheral blood sample was taken from all subjects. The frequencies of CTLA-4 rs3087243 and rs231775 polymorphisms were assayed by restriction fragment length polymorphism polymerase chain reaction and rs5742909 using the high-resolution melting real-time polymerase chain reaction method. Results: The mean age of the women in the control and RPL groups were 30.03 ± 4.23 (range 21-37), and 28.64 ± 3.61 yr (range 20-35), respectively. Pregnancy loss numbers ranged between 2-6 in women with a history of RPL, and between 1 and 4 in the successful pregnancy group. Statistical analysis showed a significant difference between the genotypes of GG and AG in the 2 groups in rs3087243 polymorphism (OR 1.00 for GG genotype and OR 2.87 for AG genotype, p = 0.0043). No significant difference was observed in the genotype frequencies of rs231775 and rs5742909 polymorphisms, of the 2 groups (p = 0.37, and p = 0.095), respectively. Conclusion: Our findings indicated that CTLA-4 polymorphism, rs3087243, might be associated with a risk of RPL in Iranian women. Key words: Recurrent pregnancy loss, Single nucleotide polymorphisms, CTLA-4 gene

Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with unexplained recurrent pregnancy loss: A case-control study

Background: Lymphoid-tyrosine-phosphatase which is encoded by the protein tyrosine phosphatase non-receptor 22 (PTPN22) gene plays a pivotal role in the regulation of immune responses by dephosphorylating several signaling intermediates of immune cells. Objective: Since a balanced immune response has been shown to be important during pregnancy, the purpose of this research was to compare the frequency of the PTPN22 C1858T polymorphism in women with unexplained recurrent pregnancy loss (URPL) vs. in a control group for the first time. Materials and Methods: Genomic DNA from 200 individuals with URPL and 200 individuals without URPL (the control group) at the infertility center in Yazd, Iran was isolated using the salting-out method. The PTPN22 C1858T polymorphism of the two groups was analyzed using polymerase chain reaction-restriction fragment length polymorphism. Genotype frequencies in the women with URPL and the fertile control group were compared using the Chi-square test. Results: There were significant differences in the frequency of the PTPN22 1858T polymorphism in the URPL individuals vs. the healthy controls, i.e. 32.0% and 21.5%, respectively (p = 0.01). Conclusion: Our findings suggest that the PTPN22 1858T polymorphism could play a role in recurrent pregnancy loss. Therefore, genotyping of the mentioned polymorphism can help clinicians to predict the probable risk of URPL. Key words: Recurrent pregnancy loss, PTPN22 protein, Single nucleotide polymorphism

Improving Performance of Object Detection using the Mechanisms of Visual Recognition in Humans

Object recognition systems are usually trained and evaluated on high resolution images. However, in real world applications, it is common that the images have low resolutions or have small sizes. In this study, we first track the performance of the state-of-the-art deep object recognition network, Faster- RCNN, as a function of image resolution. The results reveals negative effects of low resolution images on recognition performance. They also show that different spatial frequencies convey different information about the objects in recognition process. It means multi-resolution recognition system can provides better insight into optimal selection of features that results in better recognition of objects. This is similar to the mechanisms of the human visual systems that are able to implement multi-scale representation of a visual scene simultaneously. Then, we propose a multi-resolution object recognition framework rather than a single-resolution network. The proposed framework is evaluated on the PASCAL VOC2007 database. The experimental results show the performance of our adapted multi-resolution Faster-RCNN framework outperforms the single-resolution Faster-RCNN on input images with various resolutions with an increase in the mean Average Precision (mAP) of 9.14% across all resolutions and 1.2% on the full-spectrum images. Furthermore, the proposed model yields robustness of the performance over a wide range of spatial frequencies

Frequency of the rs 14035 polymorphism of RAN gen in recurrent pregnancy loss: A case-control study

Background: Genetic factors could account for recurrent pregnancy loss (RPL). The RAN gene is a member of the ”large RAS family” and a small GTPase that is essential for the translocation of Ribonucleic acid (RNA) and proteins through the nuclear pore. Mutation in the RAN constitutive gene could stop DNA synthesis and alter the expression of genes in the uterus, likely playing a role in recurrent miscarriage. Objective: The aim was to investigate the frequency of RAN (rs 14035) polymorphism in women with RPL compared with women without abortion history. Materials and Methods: In this case-control study, 100 women with at least two consecutive miscarriages before the 20th wk of gestation and having spouses with karyotype and normal sperm parameters as the case group and 100 women with no history of abortion and having at least one successful pregnancy and normal delivery as the control group. The groups were age matched (20-40 yr). The rs 14035 polymorphism of RAN gene was investigated by Polymerase Chain Reaction- Restriction Fragment Length poly morphism technique and the frequency of which was compared between the two groups. Results: The frequency of TT, TC, and CC genotypes of RAN gene polymorphism in the case group were 9%, 40%, and 51%, respectively, and in the control group were 11%, 38%, and 51%, respectively. There was no significant difference in the genotypes between two groups (p = 0.882). Conclusion: According to our results, it seems that RAN polymorphism (rs 14035) is not associated with the risk of RPL in this study population. Key words: RAN gene, Repeated abortion, Polymorphism, PCR-RFLP

Association of M55L and Q192R polymorphisms of paraoxonase 1 gene (PON1) with recurrent pregnancy loss risk: A case–control study

Background: Recurrent pregnancy loss (RPL) refers to the incidence of two or more abortions before the first half of pregnancy. Oxidative stress has been hypothesized to play a central role in RPL. Objective: To investigate the relationship between Q192R and L55M polymorphisms of PON1 as antioxidant enzyme and the risk of RPL. Materials and Methods: In this case–control study, 110 women with RPL (case) and 110 healthy fertile women (control) referred to the Research and Clinical Center for Infertility, Shiraz, Iran were enrolled. Genomic DNA was extracted from the peripheral blood in all participants. Polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. Results: Statistical analysis of Q192R polymorphism showed a significant difference for the RR genotype between the case and control group (OR = 11, CI = 1.39–86.87, p = 0.005) but none for the QR and QQ genotypes. No significant association was observed between the R and Q allelic frequency in the RPL participants compared to the control group (p = 0.53). Also, statistical analysis of the L55M polymorphism for MM genotype in the case group compared with the control group showed a significant difference (OR = 3.59, CI = 0.97–13.30, p = 0.042), but none for the LM and LL genotypes. Conclusion: The findings showed a significant correlation between the Q192R polymorphisms and the L55M PON1 enzyme and RPL in this study population. Key words: Pregnancy, Abortion, PON1, Polymorphism, Recurrent pregnancy loss

CAG repeat polymorphism in androgen receptor and infertility: A case-control study

Background: Androgens play a role in the development of male phenotype and spermatogenesis during puberty, the function of which is regulated by the androgen receptor (AR) gene. There is a polymorphism site in exon 1 of the gene encoding this receptor that can have different frequencies of CAG trinucleotide repeats and leads to the formation of polyglutamine chains of different lengths in the N-terminal domain of the AR protein and reduced sperm production by affecting spermatogenesis. Objective: To investigate whether the cause of a group of unexplained infertilities could be the increased frequency of CAG repeats in the AR gene of patients with oligozoospermia and azoospermia. Materials and Methods: In this case-control study, 84 men including 42 with unexplained infertility As a case group and 42 fertile men as a control group were selected. The frequency of CAG repeats was determined by the polymerase chain reaction method and then the difference in the frequency of these repeats was determined based on the difference in band size on the agarose gel. Results: The mean CAG repeat length in the azoospermia and oligozoospermia group was 17.5 ± 0.63 and in the fertile group it was 16.11 ± 0.75 (p = 0.46). In addition, most men (88.1% in the case group and 71.41% in the control group) had 13-23 repeats. Conclusion: No significant correlation was found between CAG repeat length and the risk of male factor infertility in an ethnically defined population of Iranian men. The role of regulatory factors and epigenetic changes should be taken into account too. Key words: Infertility, Azoospermia, Androgens, X chromosome, Spermatogenesis

Association study of ESR1 rs9340799, rs2234693, and MMP2 rs243865 variants in Iranian women with premature ovarian insufficiency: A case-control study

Background: Primary ovarian insufficiency (POI) is a rare disease clinically characterized by ovarian follicles depletion or dysfunction and menopause before the age of 40 yr as the cut-off age for POI. It is a complex disease, and its etiology involves several factors. However, genetic factors have a predominant role in the susceptibility to the disease. Objective: This study aims to investigate the polymorphisms of rs243865 in the matrix metallopeptidase 2 (MMP2) gene and rs2234693 and rs9340799 in the estrogen receptor 1 (ESR1) gene with susceptibility to POI in Iranian women under 35 yr. Materials and Methods: This case-control study was performed on 150 women with POI and 150 healthy women who were referred to Yazd Reproductive Sciences Institute, Yazd, Iran between May-October 2020. The genotyping of ESR1 rs9340799, rs2234693, and MMP2 rs243865 polymorphism was done using tetra-amplification refractory mutation system-polymerase chain reaction. In addition, haplotype analysis and linkage disequilibrium were investigated by SNPanalyzer software. Results: Our study revealed the frequency of rs243865 TT, CC genotypes in the MMP2 gene and rs2234693 CC, TT; and rs9340799 GG, AA in the ESR1 gene were more prevalent in the case group compared to the control group. In addition, ESR1 rs2234693 and rs9340799 genotypes showed significant association with the development of the disease in our population. Among 4 haplotypes for 2 polymorphisms in the ESR1 gene, rs2234693T/rs9340799A haplotype was associated with conferring risk to POI. Conclusion: ESR1 rs2234693 and rs9340799 polymorphism were strongly associated with our population’s POI. Key words: Matrix metalloproteinase-2, Estrogen receptor alpha, Primary ovarian insufficiency, Female infertility