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   Table of Contents - Current issue
November-December 2021
Volume 23 | Issue 6
Page Nos. 547-652

Online since Saturday, October 30, 2021

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Meiosis: no end in sight p. 547
Ming-Han Tong
DOI:10.4103/aja202192  PMID:34708720
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The role of retinoic acid in the commitment to meiosis p. 549
Rachel L Gewiss, M Christine Schleif, Michael D Griswold
DOI:10.4103/aja202156  PMID:34472453
Male meiosis is a complex process whereby spermatocytes undergo cell division to form haploid cells. This review focuses on the role of retinoic acid (RA) in meiosis, as well as several processes regulated by RA before cell entry into meiosis that are critical for proper meiotic entry and completion. Here, we discuss RA metabolism in the testis as well as the roles of stimulated by retinoic acid gene 8 (STRA8) and MEIOSIN, which are responsive to RA and are critical for meiosis. We assert that transcriptional regulation in the spermatogonia is critical for successful meiosis.
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The molecular control of meiotic double-strand break (DSB) formation and its significance in human infertility p. 555
Yang Li, Yu-Fan Wu, Han-Wei Jiang, Ranjha Khan, Qi-Qi Han, Furhan Iqbal, Xiao-Hua Jiang, Qing-Hua Shi
DOI:10.4103/aja.aja_5_21  PMID:33586697
Meiosis is an essential step in gametogenesis which is the key process in sexually reproducing organisms as meiotic aberrations may result in infertility. In meiosis, programmed DNA double-strand break (DSB) formation is one of the fundamental processes that are essential for maintaining homolog interactions and correcting segregation of chromosomes. Although the number and distribution of meiotic DSBs are tightly regulated, still abnormalities in DSB formation are known to cause meiotic arrest and infertility. This review is a detailed account of molecular bases of meiotic DSB formation, its evolutionary conservation, and variations in different species. We further reviewed the mutations of DSB formation genes in association with human infertility and also proposed the future directions and strategies about the study of meiotic DSB formation.
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Crossover patterns under meiotic chromosome program p. 562
Shunxin Wang, Yongliang Shang, Yanlei Liu, Binyuan Zhai, Xiao Yang, Liangran Zhang
DOI:10.4103/aja.aja_86_20  PMID:33533735
Repairing DNA double-strand breaks (DSBs) with homologous chromosomes as templates is the hallmark of meiosis. The critical outcome of meiotic homologous recombination is crossovers, which ensure faithful chromosome segregation and promote genetic diversity of progenies. Crossover patterns are tightly controlled and exhibit three characteristics: obligatory crossover, crossover interference, and crossover homeostasis. Aberrant crossover patterns are the leading cause of infertility, miscarriage, and congenital disease. Crossover recombination occurs in the context of meiotic chromosomes, and it is tightly integrated with and regulated by meiotic chromosome structure both locally and globally. Meiotic chromosomes are organized in a loop-axis architecture. Diverse evidence shows that chromosome axis length determines crossover frequency. Interestingly, short chromosomes show different crossover patterns compared to long chromosomes. A high frequency of human embryos are aneuploid, primarily derived from female meiosis errors. Dramatically increased aneuploidy in older women is the well-known “maternal age effect.” However, a high frequency of aneuploidy also occurs in young women, derived from crossover maturation inefficiency in human females. In addition, frequency of human aneuploidy also shows other age-dependent alterations. Here, current advances in the understanding of these issues are reviewed, regulation of crossover patterns by meiotic chromosomes are discussed, and issues that remain to be investigated are suggested.
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The formation and repair of DNA double-strand breaks in mammalian meiosis p. 572
Wei Qu, Cong Liu, Ya-Ting Xu, Yu-Min Xu, Meng-Cheng Luo
DOI:10.4103/aja202191  PMID:34708719
Programmed DNA double-strand breaks (DSBs) are necessary for meiosis in mammals. A sufficient number of DSBs ensure the normal pairing/synapsis of homologous chromosomes. Abnormal DSB repair undermines meiosis, leading to sterility in mammals. The DSBs that initiate recombination are repaired as crossovers and noncrossovers, and crossovers are required for correct chromosome separation. Thus, the placement, timing, and frequency of crossover formation must be tightly controlled. Importantly, mutations in many genes related to the formation and repair of DSB result in infertility in humans. These mutations cause nonobstructive azoospermia in men, premature ovarian insufficiency and ovarian dysgenesis in women. Here, we have illustrated the formation and repair of DSB in mammals, summarized major factors influencing the formation of DSB and the theories of crossover regulation.
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The organization, regulation, and biological functions of the synaptonemal complex p. 580
Feng-Guo Zhang, Rui-Rui Zhang, Jin-Min Gao
DOI:10.4103/aja202153  PMID:34528517
The synaptonemal complex (SC) is a meiosis-specific proteinaceous macromolecular structure that assembles between paired homologous chromosomes during meiosis in various eukaryotes. The SC has a highly conserved ultrastructure and plays critical roles in controlling multiple steps in meiotic recombination and crossover formation, ensuring accurate meiotic chromosome segregation. Recent studies in different organisms, facilitated by advances in super-resolution microscopy, have provided insights into the macromolecular structure of the SC, including the internal organization of the meiotic chromosome axis and SC central region, the regulatory pathways that control SC assembly and dynamics, and the biological functions exerted by the SC and its substructures. This review summarizes recent discoveries about how the SC is organized and regulated that help to explain the biological functions associated with this meiosis-specific structure.
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Rescue of male infertility through correcting a genetic mutation causing meiotic arrest in spermatogonial stem cells Highly accessed article p. 590
Ying-Hua Wang, Meng Yan, Xi Zhang, Xin-Yu Liu, Yi-Fu Ding, Chong-Ping Lai, Ming-Han Tong, Jin-Song Li
DOI:10.4103/aja.aja_97_20  PMID:33533741
Azoospermia patients who carry a monogenetic mutation that causes meiotic arrest may have their biological child through genetic correction in spermatogonial stem cells (SSCs). However, such therapy for infertility has not been experimentally investigated yet. In this study, a mouse model with an X-linked testis-expressed 11 (TEX11) mutation (Tex11PM/Y) identified in azoospermia patients exhibited meiotic arrest due to aberrant chromosome segregation. Tex11PM/Y SSCs could be isolated and expanded in vitro normally, and the mutation was corrected by clustered regularly interspaced short palindromic repeats (CRISPR)–CRISPR-associated endonuclease 9 (Cas9), leading to the generation of repaired SSC lines. Whole-genome sequencing demonstrated that the mutation rate in repaired SSCs is comparable with that of autonomous mutation in untreated Tex11PM/Y SSCs, and no predicted off-target sites are modified. Repaired SSCs could restore spermatogenesis in infertile males and give rise to fertile offspring at a high efficiency. In summary, our study establishes a paradigm for the treatment of male azoospermia by combining in vitro expansion of SSCs and gene therapy.
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The use of spermatogonial stem cells to correct a mutation causing meiotic arrest p. 600
Qijing Lei, Geert Hamer
DOI:10.4103/aja.aja_2_21  PMID:33565423
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Low-intensity pulsed ultrasound stimulates proliferation of stem/progenitor cells: what we need to know to translate basic science research into clinical applications p. 602
Yan Tan, Yang Guo, Amanda B Reed-Maldonado, Zheng Li, Guiting Lin, Shu-Jie Xia, Tom F Lue
DOI:10.4103/aja.aja_25_21  PMID:33818526
Low-intensity pulsed ultrasound (LIPUS) is a promising therapy that has been increasingly explored in basic research and clinical applications. LIPUS is an appealing therapeutic option as it is a noninvasive treatment that has many advantages, including no risk of infection or tissue damage and no known adverse reactions. LIPUS has been shown to have many benefits including promotion of tissue healing, angiogenesis, and tissue regeneration; inhibition of inflammation and pain relief; and stimulation of cell proliferation and differentiation. The biophysical mechanisms of LIPUS remain unclear and the studies are ongoing. In recent years, more and more research has focused on the relationship between LIPUS and stem/progenitor cells. A comprehensive search of the PubMed and Embase databases to July 2020 was performed. LIPUS has many effects on stem cells. Studies show that LIPUS can stimulate stem cells in vitro; promote stem cell proliferation, differentiation, and migration; maintain stem cell activity; alleviate the problems of insufficient seed cell source, differentiation, and maturation; and circumvent the low efficiency of stem cell transplantation. The mechanisms involved in the effects of LIPUS are not fully understood, but the effects demonstrated in studies thus far have been favorable. Much additional research is needed before LIPUS can progress from basic science research to large-scale clinical dissemination and application.
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Clinical outcome of pediatric and young adult subclinical varicoceles: a single-institution experience p. 611
Patricia S Cho, Richard N Yu, Harriet J Paltiel, Matthew A Migliozzi, Xiaoran Li, Alyssia Venna, David A Diamond
DOI:10.4103/aja.aja_22_21  PMID:33885004
Subclinical varicocele represents an abnormality of veins of the pampiniform plexus on scrotal ultrasound (US) without a clinically palpable varicocele. Its significance remains unclear. While guidelines do not recommend surgical intervention, clinical management is variable. As there is limited information on long-term outcome of subclinical varicoceles due to challenges in diagnosis and management, we performed a single-institution, retrospective review of patients from October 1999 to October 2014 with subclinical varicocele and with available US studies reviewed by a single radiologist. Subclinical varicocele was defined as dilation of the pampiniform venous plexus on US involving ≥2 vessels with diameter >2.5 mm, without clinical varicocele on physical examination or prior inguinal surgery. Thirty-six of 98 patients identified were confirmed as having a subclinical varicocele and analyzed. The mean age at initial visit was 15.5 years, with a mean follow-up of 26.5 months. The majority were right-sided (69.4%, n = 25), usually with a contralateral clinical varicocele. Testicular asymmetry (>20% volume difference of the affected side by testicular atrophy index formula) was assessed in 9 patients with unilateral subclinical varicocele without contralateral clinical or subclinical varicocele and observed in 1 patient. Of 17 patients with follow-up, 3 (17.6%) progressed to clinical varicocele without asymmetric testicular volume, as most remained subclinical or resolved without surgery. In our experience, subclinical varicoceles appeared unlikely to progress to clinical varicoceles, to affect testicular volume, or to lead to surgery. Although our study is limited in numbers and follow-up, this information may aid clinical management strategies and guide future prospective studies.
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Resident involvement in the prostatic urethral lift: implementing innovative technology in an academic setting p. 616
Ridwan Alam, Matthew J Rabinowitz, Taylor P Kohn, Vanessa N Peña, James L Liu, Yasin Bhanji, Amin S Herati
DOI:10.4103/aja.aja_21_21  PMID:33885003
Adoption of the prostatic urethral lift (PUL) as a treatment for benign prostatic hyperplasia highlights the importance of training residents with novel technology without compromising patient care. This study examines the effect of resident involvement during PUL on patient and procedural outcomes. Retrospective chart review was conducted on all consecutive PUL cases performed by a single academic urologist between October 2017 and November 2019. Trainees in post-graduate year (PGY) 1–3 are considered junior residents, while those in PGY 4–6 are senior residents. The International Prostate Symptom Score (IPSS) and quality of life (QOL) scores were used to measure outcomes. Simple and mixed-effects linear regression models were used to compare differences. There were 110 patients with a median age of 66.4 years. Residents were involved in 73 cases (66.4%), and senior residents were involved in 31 of those cases. Resident involvement was not associated with adverse perioperative outcomes with respect to the number of implants fired, the percentage of implants successfully placed, or the postoperative catheterization rate. After adjustment for confounding factors, junior residents were associated with significantly longer case length compared to the attending alone (+12.6 min, P = 0.003) but senior residents were not (+2.4 min, P = 0.59). IPSS and QOL scores were not significantly affected by resident involvement (P = 0.12 and P = 0.21, respectively). The presence of surgeons-in-training, particularly those in the early stages, prolongs PUL case length but does not appear to have an adverse impact on patient outcomes.
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PGT or ICSI? The impression of NGS-based PGT outcomes in nonmosaic Klinefelter syndrome p. 621
Jing Tong, Xiao-Ming Zhao, An-Ran Wan, Ting Zhang
DOI:10.4103/aja.aja_30_21  PMID:33904506
This retrospective study demonstrates the clinical outcomes of patients with nonmosaic Klinefelter's syndrome (KS) who underwent preimplantation genetic testing (PGT) with frozen-thawed testicular spermatozoa. Microdissection testicular sperm extraction (micro-TESE) was performed for sperm retrieval. Next-generation sequencing (NGS) was conducted for embryo analysis. A total of 18 couples aged ≤35 years were included, and 22 oocyte retrieval cycles were completed. Euploidy was detected in 29 of 45 (64.4%) embryos. Additionally, the numbers of aneuploid and mosaic embryos detected were 8 (17.8%) and 8 (17.8%), respectively, regardless of a lack of sex chromosome abnormalities. Finally, 13 couples with euploid embryos completed 14 frozen embryo transfer (FET) cycles. Ten couples had clinical pregnancies, and 6 of them had already delivered 5 healthy babies and 1 monozygotic twin. There were also 4 ongoing pregnancies and 2 biochemical pregnancies, but no early pregnancy loss was reported. Based on our results, we speculate that for KS patients, when sperm can be obtained by micro-TESE, the cryopreservation strategy makes the ovarian stimulation procedure more favorable for female partners. The paternal genetic risk of sex chromosome abnormalities in their offspring is extremely low in men with KS. In addition to PGT, the intracytoplasmic sperm injection (ICSI) procedure is comparably effective but more economical for young nonmosaic KS couples. ICSI should be offered as an option for such couples, but monitoring by prenatal genetic diagnosis is recommended.
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Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families p. 627
Ihsan Khan, Basit Shah, Sobia Dil, Nadeem Ullah, Jian-Teng Zhou, Da-Ren Zhao, Yuan-Wei Zhang, Xiao-Hua Jiang, Ranjha Khan, Asad Khan, Haider Ali, Muhammad Zubair, Wasim Shah, Huan Zhang, Qing-Hua Shi
DOI:10.4103/aja.aja_26_21  PMID:34100391
Multiple morphological abnormalities of the sperm flagella (MMAF) is a specific type of asthenoteratozoospermia, presenting with multiple morphological anomalies in spermatozoa, such as absent, bent, coiled, short, or irregular caliber flagella. Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins (CFAPs; e.g., CFAP43, CFAP44, CFAP65, CFAP69, CFAP70, and CFAP251) responsible for the MMAF phenotype in infertile men from different ethnic groups. However, none of them have been identified in infertile Pakistani males with MMAF. In the current study, two Pakistani families with MMAF patients were recruited. Whole-exome sequencing (WES) of patients and their parents was performed. WES analysis reflected novel biallelic loss-of-function mutations in CFAP43 in both families (Family 1: ENST00000357060.3, p.Arg300Lysfs*22 and p.Thr526Serfs*43 in a compound heterozygous state; Family 2: ENST00000357060.3, p.Thr526Serfs*43 in a homozygous state). Sanger sequencing further confirmed that these mutations were segregated recessively in the families with the MMAF phenotype. Semiquantitative reverse-transcriptase polymerase chain reaction (qRT-PCR) was carried out to detect the effect of the mutation on mRNA of the affected gene. Previous research demonstrated that biallelic loss-of-function mutations in CFAP43 accounted for the majority of all CFAP43-mutant MMAF patients. To the best of our knowledge, this is the first study to report CFAP43 biallelic loss-of-function mutations in a Pakistani population with the MMAF phenotype. This study will help researchers and clinicians to understand the genetic etiology of MMAF better.
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Depressive males have higher odds of lower urinary tract symptoms suggestive of benign prostatic hyperplasia: a retrospective cohort study based on propensity score matching p. 633
Yang Xiong, Yang-Chang Zhang, Tao Jin, Feng Qin, Jiu-Hong Yuan
DOI:10.4103/aja.aja_12_21  PMID:33818525
Lower urinary tract symptoms suggestive of benign prostate hyperplasia (LUTS/BPH) and depression are both increasing in Chinese aging males. However, the relationship still remains unknown. To explore their relationship, a retrospective cohort study based on propensity score matching (PSM) was conducted by analyzing the China Health and Retirement Longitudinal Study dataset. After data cleaning, a total of 5125 participants were enrolled and subjected to PSM; 1351 pairs were matched and followed for 2 years. Further logistic regression and restricted cubic spline (RCS) were performed to evaluate, model and visualize the relationship between depression and LUTS/BPH. Moreover, subgroup analyses and sensitivity analyses were adopted to verify the robustness of the conclusions. Before PSM, depressive patients showed higher odds of LUTS/BPH in all three models adjusting for different covariates (P < 0.001). After PSM, univariate logistic regression revealed that depressive patients had higher risks for LUTS/BPH than participants in the control group (odds ratio [OR] = 2.10, P < 0.001). The RCS results indicated a nonlinear (P < 0.05) and inverted U-shaped relationship between depression and LUTS/BPH. In the subgroup analyses, no increased risks were found among participants who were not married or cohabitating, received an education, had an abnormal body mass index (<18.5 kg m−2 and ≥28 kg m−2), slept more than 6 h, did not smoke, and drank less than once a month (all P > 0.05). The results of sensitivity analyses indicated identical increased risks of LUTS/BPH in all four models (all P < 0.001). In conclusion, depression enhances the risks of LUTS/BPH in aging males.
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A comparison of perioperative outcomes between extraperitoneal robotic single-port and multiport radical prostatectomy with the da Vinci Si Surgical System p. 640
Guan-Qun Ju, Zhi-Jun Wang, Jia-Zi Shi, Zong-Qin Zhang, Zhen-Jie Wu, Lei Yin, Bing Liu, Lin-Hui Wang, Dong-Liang Xu
DOI:10.4103/aja.aja_50_21  PMID:34135173
To evaluate outcomes between extraperitoneal robotic single-port radical prostatectomy (epR-spRP) and extraperitoneal robotic multiport radical prostatectomy (epR-mpRP) performed with the da Vinci Si Surgical System, comparison was performed between 30 single-port (SP group) and 26 multiport (MP group) cases. Comparisons included operative time, estimated blood loss (EBL), hospital stay, peritoneal violation, pain scores, scar satisfaction, continence, and erectile function. The median operation time and EBL were not different between the two groups. In the SP group, the median operation time of the first 10 patients was obviously longer than that of the latter 20 patients (P < 0.001). The median postoperative hospital stay in the SP group was shorter than that in the MP group (P < 0.001). The rate of peritoneal damage in the SP group was less than that in the MP group (P = 0.017). The pain score and overall need for pain medications in the SP group were lower than those in the MP group (P < 0.001 and P = 0.015, respectively). Patients in the SP group were more satisfied with their scars than those in the MP group 3 months postoperatively (P = 0.007). At 3 months, the cancer control, recovery of erectile function, and urinary continence rates were similar between the two groups. It is safe and feasible to perform epR-spRP using the da Vinci Si surgical system. Therefore, epR-spRP can be a treatment option for localized prostate cancer. Although epR-spRP still has a learning curve, it has advantages for postoperative pain and self-assessed cosmesis. In the absence of the single-port robotic surgery platform, we can still provide minimally invasive surgery for patients.
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The past, present, and future of single-port urology? p. 648
Luca A Morgantini, Simone Crivellaro, Ryan W Dobbs
DOI:10.4103/aja202148  PMID:34341223
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Commentary on “Metabolic syndrome, levels of androgens, and changes of erectile dysfunction and quality of life impairment 1 year after radical prostatectomy” p. 649
Tet Yap
DOI:10.4103/aja.aja_42_21  PMID:34045391
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Commentary on “Clinical outcome of pediatric and young adult subclinical varicoceles: a single-institution experience” p. 650
Franco Palmisano, Michele Talso, Antonio Maria Granata, Andrea Gregori
DOI:10.4103/aja.aja_34_21  PMID:33904507
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Commentary on “PGT or ICSI? The impression of NGS-based PGT outcomes in nonmosaic Klinefelter syndrome” p. 651
Ermanno Greco, Filomena Scarselli, Giulia Pirastu
DOI:10.4103/aja.aja_62_21  PMID:34341222
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