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Cureus Dec 2023Inflammation of the vas deferens, or vasitis, is a rarely reported condition that can manifest as either acutely painful infectious vasitis or predominantly asymptomatic...
Inflammation of the vas deferens, or vasitis, is a rarely reported condition that can manifest as either acutely painful infectious vasitis or predominantly asymptomatic vasitis nodosa. Acute vasitis is usually presented with ambiguous clinical findings, and a scan is required for a definitive diagnosis. Retrograde urinary pathogens are typically the cause, and it is treatable conservatively. We present a male in his 40s with a one-day history of right groin pain and a history of right indirect inguinal hernia. On examination, there was an impression of an incarcerated inguinal hernia. A CT scan revealed thickening and inflammatory changes associated with the inguinal canal and a picture of the rare inflammatory condition, acute vasitis. This case report illustrates the significance of understanding the wide range of possible diagnoses associated with acute groin pain and swelling and the importance of imaging in the diagnosis, which might help avoid needless operation.
PubMed: 38288181
DOI: 10.7759/cureus.51337 -
Molecular Genetics & Genomic Medicine Jan 2024Cystic fibrosis (CF) is an autosomal recessive disorder rarely found in Asian populations. Most males with CF are infertile because of obstructive azoospermia (OA)...
BACKGROUND
Cystic fibrosis (CF) is an autosomal recessive disorder rarely found in Asian populations. Most males with CF are infertile because of obstructive azoospermia (OA) caused by congenital bilateral absence of the vas deferens (CBAVD). Compound heterozygous mutations of cystic fibrosis transmembrane conductance regulator (CFTR) are among the most common pathogenic factors in CBAVD. However, few genealogical analyses have been performed.
METHODS
In this study, whole-exome sequencing and cosegregation analysis were performed in a Chinese pedigree involving two siblings with CBAVD. Moreover, in vitro gene expressions were used to analyze the pathogenicity of a novel CFTR mutation.
RESULTS
We identified compound heterozygous mutations of CFTR comprising the known disease-causing variant c.1210-11T>G (also known as IVS9-5 T) and c.2144delA;p.q715fs in two siblings with CBAVD. To verify the effects in vitro, we transfected vectors expressing wild-type and mutated CFTR into 293T cells. The results showed that the CFTR protein containing the frameshift mutation (c.2144delA) was 60 kD smaller. With testicular sperm aspiration/intracytoplasmic sperm injection-embryo transfer (TESA/ICSI-ET), both CBAVD patients fathered healthy offspring.
CONCLUSION
Our study revealed that compound heterozygous mutations of CFTR are involved in CBAVD, expanding the known CFTR gene mutation spectrum of CBAVD patients and providing more evidence that compound heterozygous mutations can cause familial CBAVD.
Topics: Humans; Male; Infertility, Male; Cystic Fibrosis Transmembrane Conductance Regulator; Pedigree; Semen; Mutation; Vas Deferens; Cystic Fibrosis; China; Male Urogenital Diseases
PubMed: 38284450
DOI: 10.1002/mgg3.2364 -
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 -
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 -
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 -
Central European Journal of Urology 2023The authors in this paper discuss a rare disease entity that can cause testicular pain and mimic varicocele. (Review)
Review
INTRODUCTION
The authors in this paper discuss a rare disease entity that can cause testicular pain and mimic varicocele.
MATERIAL AND METHODS
Citing data from a review of the world literature, spermatic cord thrombosis is most often misdiagnosed as an incarcerated inguinal hernia. Patients usually complain of pain and swelling of the testicle, pain in the inguinal region, and sometimes a palpable mass in the inguinal region.
RESULTS
Ultrasonography with colour Doppler usually establishes the correct diagnosis. Currently, there are no official recommendations for the treatment of this disease.There are reports of conservative treatment of spermatic cord thrombosis in the world literature. However, it seems that the gold standard of management remains surgical exploration, which allows us to unequivocally establish the correct diagnosis. In cases of co-morbid thrombosis with spermatic cord varicocelectomy is recommended.
CONCLUSIONS
Due to the rarity of this disease, the topic of this article was undertaken. The paper reviews the world literature relating to the diagnosis and treatment of this disease entity. Our own algorithm for the management of spermatic cord thrombosis is proposed.
PubMed: 38045772
DOI: 10.5173/ceju.2023.13 -
Asian Journal of Surgery Feb 2024
Topics: Male; Humans; Vas Deferens; Urethra; Fistula; Urinary Bladder; Pelvis
PubMed: 38042660
DOI: 10.1016/j.asjsur.2023.11.052