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Nature Communications Jan 2024Breeding bulls are well suited to investigate inherited variation in male fertility because they are genotyped and their reproductive success is monitored through semen...
Breeding bulls are well suited to investigate inherited variation in male fertility because they are genotyped and their reproductive success is monitored through semen analyses and thousands of artificial inseminations. However, functional data from relevant tissues are lacking in cattle, which prevents fine-mapping fertility-associated genomic regions. Here, we characterize gene expression and splicing variation in testis, epididymis, and vas deferens transcriptomes of 118 mature bulls and conduct association tests between 414,667 molecular phenotypes and 21,501,032 genome-wide variants to identify 41,156 regulatory loci. We show broad consensus in tissue-specific and tissue-enriched gene expression between the three bovine tissues and their human and murine counterparts. Expression- and splicing-mediating variants are more than three times as frequent in testis than epididymis and vas deferens, highlighting the transcriptional complexity of testis. Finally, we identify genes (WDR19, SPATA16, KCTD19, ZDHHC1) and molecular phenotypes that are associated with quantitative variation in male fertility through transcriptome-wide association and colocalization analyses.
Topics: Humans; Cattle; Animals; Male; Mice; Quantitative Trait Loci; Epididymis; Testis; Consensus; Fertility
PubMed: 38253538
DOI: 10.1038/s41467-024-44935-7 -
Journal of Robotic Surgery Jan 2024To investigate the incidence and risk factors of inguinal hernia (IH) after robot-assisted radical prostatectomy (RARP) using a multicentric database. The present study...
To investigate the incidence and risk factors of inguinal hernia (IH) after robot-assisted radical prostatectomy (RARP) using a multicentric database. The present study used a multicentric database (the MSUG94) containing data on 3,195 Japanese patients undergoing RARP between 2012 and 2021. Surgical procedures utilized for IH prevention were as follows: isolation of the vas deferens, transection of the vas deferens, isolation of the spermatic vessels, and separation of the peritoneum from the internal inguinal ring. The primary and secondary endpoints were IH-free survival and any association between post-RARP IH and clinical covariates. The prophylactic effect of the above procedures were also assessed. IH prevention was attempted in 1,465 (46.4%) patients at five of the nine hospitals. During follow-up (median 24 months), post-RARP IH developed in 243 patients. The post-RARP IH-free survival rates at years 1, 2, and 3 were 94.3%, 91.7%, and 90.5%, respectively. Old age (hazard ratio [HR] 1.037; 95% confidence interval [CI] 1.014-1.061; p = 0.001), low BMI (HR 0.904; 95% CI 0.863-0.946: p < 0.001), and low hospital volume (HR 1.385; 95% CI 1.003-1.902; p = 0.048) were independently associated with IH development. None of the procedures for IH prevention were associated with IH development. Our findings may represent the current, real-world status of post-RARP IH in Japan. The prophylactic effects of the surgical procedures for IH prevention should be further investigated in well-designed, prospective studies to optimize the surgical technique.
Topics: Humans; Male; Cohort Studies; Hernia, Inguinal; Incidence; Japan; Prostatectomy; Risk Factors; Robotic Surgical Procedures; Robotics; Retrospective Studies
PubMed: 38231428
DOI: 10.1007/s11701-023-01761-1 -
Urology Practice Mar 2024Chronic scrotal pain is difficult to manage, and epididymectomy is a treatment option for a subset of men with pain localized to the epididymis. We sought to evaluate...
INTRODUCTION
Chronic scrotal pain is difficult to manage, and epididymectomy is a treatment option for a subset of men with pain localized to the epididymis. We sought to evaluate the efficacy of epididymectomy at our institution.
METHODS
Between 2000 and 2020, 225 men underwent epididymectomy at our institution for pain localized to the epididymis and not part of a greater constellation of pelvic pain or urinary symptoms. Our primary outcome measure was change in pain after epididymectomy, categorized as cured/improved or no change/worsened. Multivariable logistic regression compared the impact of pain duration, and surgical and psychiatric histories on postoperative pain.
RESULTS
Patients in both outcome categories-cured/improved and no change/worsened-were similar in age and BMI. Overall, 162 patients (72%) reported cured/improved pain at the last documented follow-up visit. Median follow-up time was 12 (IQR 1-364) weeks. About half of the cohort (n = 117, 52%) had a prior vasectomy, and there was no difference in outcome based on vasectomy history on multivariate analysis (OR 0.625, = .3). Men with pain duration 1 year (OR 0.46, = .03), diagnosed psychiatric conditions (OR 0.44, = .04), or prior scrotal/inguinal/abdominal surgeries other than vasectomy (OR 0.47, = .03) had decreased odds of pain relief after epididymectomy.
CONCLUSIONS
This 20-year analysis is the largest review of postepididymectomy outcomes reported. Among carefully screened men, 72% had resolution or improvement of scrotal pain. Epididymectomy is most effective for men with < 1 year of focal epididymal pain, with no history of psychiatric conditions or scrotal/inguinal/abdominal surgery other than vasectomy.
Topics: Male; Humans; Epididymis; Vas Deferens; Treatment Outcome; Pain, Postoperative; Chronic Pain; Pelvic Pain; Genital Diseases, Male
PubMed: 38226929
DOI: 10.1097/UPJ.0000000000000515 -
Animal Reproduction 2023The objectives of the study were to (1) describe the kinematic parameters of spermatozoa (2) compare methods of evaluating sperm viability (3) validate assays of...
The objectives of the study were to (1) describe the kinematic parameters of spermatozoa (2) compare methods of evaluating sperm viability (3) validate assays of functionality and integrity of the sperm membrane and (4) evaluate possible changes between spermatozoa from the epididymis and the vas deferens of the greater rhea. Semen samples were recovered from 7 adult individuals. Sperm motility was characterized by adjusting the set-up for Computer-assisted semen analysis (CASA) to that new species. For sperm viability evaluation, smears of bromophenol blue and eosin-nigrosine dyes were used. Five solutions of different osmolarities were then tested for the hypoosmotic swelling test (HOST). The combination of fluorescent probes (propidium iodide - IP and Hoechst 33342) was also used to assess plasma membrane integrity. Data were presented as mean ± SEM. Rhea spermatozoa from the vas deferens had an overall motility of 14.6 ± 2.5%. The bromophenol blue staining technique revealed that 64.6 ± 5.2% sperm were viable, while that proportion was 72.1 ± 2.5% using eosin-nigrosine. An average of 77.6 ± 4.8% of spermatozoa reacted to the HOST with distilled water at 0 mOsm/l. Fluorescent probes indicated that 65.3 ± 2.6% of spermatozoa had intact membranes. Interestingly, no statistical differences were observed between the parameters analyzed in the epididymal spermatozoa and the vas deferens. These new assays set reference values that can now be used to further exploration of sperm handling conditions and freezing protocols in rheas.
PubMed: 38213765
DOI: 10.1590/1984-3143-AR2023-0113 -
BJUI Compass Jan 2024The objective of this study is to evaluate the prevalence and the importance of preperitoneal vas deferens (VD) infiltration in high-risk prostate cancer (PCa).
OBJECTIVES
The objective of this study is to evaluate the prevalence and the importance of preperitoneal vas deferens (VD) infiltration in high-risk prostate cancer (PCa).
PATIENTS AND METHODS
In this prospectively designed study, we included 332 high-risk PCa patients with a Briganti score >5%, who were treated by robot-assisted radical prostatectomy between July 2017 and February 2022 at the Urology Department, SLK Kliniken Heilbronn. In addition to the standard histological analysis of the distal VD, which was attached to the prostate specimen, we analysed the infiltration status of preperitoneal VD in this cohort. The preperitoneal VD, which represents the middle part of ductus deferens and extends between the internal inguinal ring and obturator fossa, was resected during extended pelvic lymphadenectomy. Distal and preperitoneal VD status was registered together with preoperative and postoperative disease characteristics. Descriptive analysis methods and logistic regression analysis were used.
RESULTS
Briganti score of the target cohort had a median value of 19%, while 235 patients (70.8%) of the group demonstrated a locally advanced disease. The Grade Group at prostatectomy specimen was at least 3 for 286 patients (86.1%). Distal VD infiltration was found in 20 patients (6%) and preperitoneal VD infiltration in two patients (0.6%). Distal VD infiltration was not associated with an increased possibility for positive surgical margins or nodal status among pT3b patients, while both patients with preperitoneal VD infiltration were characterized by highly aggressive disease in locally advanced stage and bilateral distal VD infiltration.
CONCLUSIONS
PCa extension along VD may reach a more proximal point of VD than the reported from the existing data infiltration of VD adjacent to seminal vesicles. This rare manifestation of PCa local extension may be the intermediate step to the rare cases of recurrence in the testicles. However, more robust data are needed to confirm the aforementioned hypothesis. Distal VD infiltration seems to have no additional prognostic value among patients with infiltrated seminal vesicles.
PubMed: 38179022
DOI: 10.1002/bco2.289 -
BMC Infectious Diseases Jan 2024To assess the value of contrast-enhanced ultrasound (CEUS) in the diagnosis of tuberous vas deferens tuberculosis (VD TB) and improve the positive diagnostic rate of VD...
BACKGROUND
To assess the value of contrast-enhanced ultrasound (CEUS) in the diagnosis of tuberous vas deferens tuberculosis (VD TB) and improve the positive diagnostic rate of VD TB.
METHODS
CEUS and routine ultrasound (US) images of 17 patients with tuberous VD TB confirmed by surgery, pathology, or laboratory semen examination were retrospectively analyzed and summarized, and the positive rates of both imaging techniques were compared.
RESULTS
The 19 VD lesions of the 17 patients were divided into two types according to the CEUS findings: Type I and Type II, and type II was divided into Types IIa, IIb, and IIc. Of the nodules with transverse diameters > 1 cm, 100% presented as type II. Of the nodules with transverse diameters < 1 cm, 37.5% (3/8) presented as type I and 62.5% (5/8) presented as type II. The sonographic manifestations of tuberous VD TB were hypoechoic and mixed echoic. The positive diagnostic rate was 89.5% for CEUS and 68.4% for US, but the difference was not significant (χ = 2.533; P = 0.111).
CONCLUSIONS
CEUS was able to show the blood supply characteristics of tuberous VD TB, the internal necrosis of nodules was more easily observed by CEUS than by routine US, which is helpful for the diagnosis of tuberous VD TB.
Topics: Male; Humans; Vas Deferens; Retrospective Studies; Contrast Media; Ultrasonography; Necrosis
PubMed: 38166757
DOI: 10.1186/s12879-023-08886-6 -
Japanese Journal of Radiology Apr 2024This review focuses on inflammatory diseases of female and male genital organs and discusses their epidemiology, pathogenesis, clinical presentation, and imaging... (Review)
Review
This review focuses on inflammatory diseases of female and male genital organs and discusses their epidemiology, pathogenesis, clinical presentation, and imaging findings. The female section covers pelvic inflammatory disease (PID) primarily caused by sexually transmitted infections (STIs) that affect the uterus, fallopian tubes, and ovaries. Unusual causes such as actinomycosis and tuberculosis have also been explored. The male section delves into infections affecting the vas deferens, epididymis, testes, prostate, and seminal vesicles. Uncommon causes such as tuberculosis, and Zinner syndrome have also been discussed. In addition, this review highlights other conditions that mimic male genital tract infections such as vasculitis, IgG4-related diseases, and sarcoidosis. Accurate diagnosis and appropriate management of these inflammatory diseases are essential for preventing serious complications and infertility. Imaging modalities such as ultrasound, magnetic resonance imaging, and computed tomography play a crucial role in diagnosis. Understanding the diverse etiologies and imaging findings is vital for the effective management of inflammatory diseases of the genital organs.
Topics: Male; Humans; Female; Pelvic Inflammatory Disease; Genitalia; Uterus; Prostate; Tuberculosis
PubMed: 38165529
DOI: 10.1007/s11604-023-01518-8 -
Journal of Assisted Reproduction and... Feb 2024The cystic fibrosis transmembrane conductance regulator (CFTR) is the most common causative gene attributed to congenital obstructive azoospermia (OA). The aim of this...
PURPOSE
The cystic fibrosis transmembrane conductance regulator (CFTR) is the most common causative gene attributed to congenital obstructive azoospermia (OA). The aim of this study was to conduct an epidemiological survey of congenital OA patients, to screen for CFTR mutations, and to follow their pregnancy outcomes in assisted reproductive technology (ART).
METHODS
This cohort study enrolled congenital OA patients undergoing ART and whole-exome sequencing from January 2018 to September 2023. Semen parameters, sex hormones, and seminal plasma biochemistry were evaluated. CFTR mutations identified in OA patients were analyzed. In addition, the laboratory outcomes, clinical outcomes, and neonatal outcomes were compared between OA patients carrying two CFTR mutations and the others after surgical sperm extraction-intracytoplasmic sperm injection (ICSI) treatment.
RESULTS
A total of 76 patients with congenital OA were enrolled. CFTR mutations were identified in 35 (46.1%) congenital OA patients. A total of 60 CFTR mutation sites of 27 types were identified, and 10 of them were novel. The average frequency was 1.71 (60/35) per person. The most common mutation was c.1210-11T > G (25%, 15/60). After ICSI treatment, there were no statistically significant differences in laboratory outcomes, clinical outcomes, and neonatal outcomes between OA patients carrying two CFTR mutations (n = 25) and other OA patients (n = 51).
CONCLUSION
Apart from the IVS9-5T mutation, the genetic mutation pattern of CFTR in Chinese OA patients is heterogeneous, which is significantly different from that of Caucasians. Although carrying two CFTR mutations or not had no effect on the pregnancy outcomes in OA patients after ICSI, genetic counseling is still recommended for such patients.
Topics: Pregnancy; Female; Infant, Newborn; Humans; Male; Azoospermia; Cystic Fibrosis Transmembrane Conductance Regulator; Cohort Studies; Semen; Mutation; Sperm Injections, Intracytoplasmic; China; Vas Deferens
PubMed: 38114870
DOI: 10.1007/s10815-023-03004-6 -
Nitric Oxide : Biology and Chemistry Feb 20246-Nitrodopamine (6-ND) is released from rat and human vas deferens and is considered a major mediator of both tissues contractility. The contractions induced by 6-ND are...
6-Nitrodopamine (6-ND) is released from rat and human vas deferens and is considered a major mediator of both tissues contractility. The contractions induced by 6-ND are selectively blocked by both tricyclic antidepressants and α-adrenoceptor antagonists. Endothelial nitric oxide synthase (eNOS) is the major isoform responsible for 6-ND release in mouse isolated heart, however the origin of 6-ND in the vas deferens is unknown. Here it was investigated by LC-MS/MS the basal release of 6-ND from isolated vas deferens obtained from control, eNOS, nNOS, and iNOS mice. In addition, it was evaluated in vitro vas deferens contractility following electric field stimulation (EFS). Basal release of 6-ND was significantly reduced in nNOS mice compared to control mice, but not decreased when the vas deferens were obtained from either eNOS or iNOS mice. Pre-incubation of the vas deferens with tetrodotoxin (1 μM) significantly reduced the basal release of 6-ND from control, eNOS, and iNOS mice but had no effect on the basal release of 6-ND from nNOS mice. EFS-induced frequency-dependent contractions of the vas deferens, which were significantly reduced when the tissues obtained from control, eNOS and iNOS mice, were pre-incubated with l-NAME, but unaltered when the vas deferens was obtained from nNOS mice. In addition, the EFS-induced contractions were significantly smaller when the vas deferens were obtained from nNOS mice. The results clearly demonstrate that nNOS is the main NO isoform responsible for 6-ND release in mouse vas deferens and reinforces the concept of 6-ND as a major modulator of vas deferens contractility.
Topics: Animals; Humans; Male; Mice; Rats; Chromatography, Liquid; Dopamine; Muscle Contraction; Nitric Oxide; Nitric Oxide Synthase Type I; Norepinephrine; Tandem Mass Spectrometry; Vas Deferens
PubMed: 38096948
DOI: 10.1016/j.niox.2023.12.002 -
Urology Annals 2023Inflammation of the vas deferens or what known as acute vasitis is an under-reported condition that usually presents with scrotal or inguinal pain and swelling which can...
Inflammation of the vas deferens or what known as acute vasitis is an under-reported condition that usually presents with scrotal or inguinal pain and swelling which can be misdiagnosed and treated as many other conditions. Here, we present one of the first cases to be reported in the literature with bilateral manifestation. A 28-year-old male patient presented complaining of bilateral testicular and inguinal pain associated with inguinal swelling for 3 days. Initially, the patient was being evaluated as a case of incarcerated bilateral inguinal hernia, but with the aid of radiological imaging, the patient was diagnosed correctly and the unnecessary surgical intervention was prevented.
PubMed: 38074184
DOI: 10.4103/ua.ua_104_22