Search Results (139)

Background/Objectives: Intramural pregnancy (IMP) is a rare type of ectopic pregnancy where the embryo implants within the uterine myometrium. This condition carries a high risk of massive hemorrhage, uterine rupture, and potentially life-threatening complications. Methods: We present a case of a 35-year-old patient who underwent in vitro fertilization (IVF) and was diagnosed with an IMP located in the back-isthmian portion of the uterus by ultrasound scan. Results: We performed a conservative treatment approach based on the gestational sac location and the patient’s stable clinical condition and desire for future fertility. We first administered mifepristone 600 mg, followed by intracavitary methotrexate under ultrasound guidance. Although originally planned, a uterine artery embolization was not performed due to the evidence of bilateral anastomoses between the uterine and ovarian arteries. Progressive reabsorption of pregnancy was observed over the course of 8 months. Conclusions: Non-surgical management can be considered for IMP, thus allowing fertility preservation. Full article

Overexploitation is the main anthropogenic threat to groupers (Epinephelidae) that aggregate to spawn. Fishing negatively affects their reproductive success and indirectly harms fishery economic yield. In the southern Gulf of Mexico, grouper catches, which include thirteen species, are in decline. A lack of biological information on each exploited species prevents optimising fishery management. Using histological examination of the gonads, the reproductive traits of red hind Epinephelus guttatus and yellowfin grouper Mycteroperca venenosa were studied from January 2008 to October 2009. Collections were made at two reef systems (Alacranes Reef and Bajos del Norte) on the continental shelf of the Yucatan Peninsula, Mexico, where these species form transient spawning aggregations. The results confirmed that previously identified spawning aggregation sites at both reefs constitute productive seasonal and perennial “hotspots” for both groupers; they spawn annually between January and April. Females of these protogynous hermaphroditic species exhibit a reproductive strategy characterised by asynchronous ovarian development organisation and ovulation. Sex ratios and maximum sizes at each reef suggest that populations of both groupers had a good conservation status as of the late 2000s. Both reefs are now marine protected areas, and a discussion is made of the consequent possible benefits to grouper population conservation and sustainability in the southern Gulf of Mexico. Full article

Cytoplasmic polyadenylation element-binding proteins (CPEBs) are critical regulators of maternal mRNA translation during oogenesis, yet their roles in insect reproduction remain underexplored. Here, we characterized CmCPEB2, a CPEB homolog in the rice leaf roller Cnaphalocrocis medinalis, a destructive lepidopteran pest insect, and elucidated its role in mating-induced oviposition. The CmCPEB2 protein harbored conserved RNA recognition motifs and a ZZ-type zinc finger domain and was phylogenetically clustered with lepidopteran orthologs. Spatiotemporal expression profiling revealed CmCPEB2 was predominantly expressed in ovaries post-mating, peaking at 12 h with a 6.75-fold increase in transcript levels. Liposome-mediated RNA interference targeting CmCPEB2 resulted in a 52% reduction in transcript abundance, leading to significant defects in ovarian maturation, diminished vitellogenin deposition, and a 36.7% decline in fecundity. The transcriptomic analysis of RNAi-treated ovaries identified 512 differentially expressed genes, with downregulated genes enriched in chorion formation and epithelial cell development. Tissue culture-based hormonal assays demonstrated the juvenile hormone-dependent regulation of CmCPEB2, as JH treatment induced its transcription, while knockdown of the JH-responsive transcription factor CmKr-h1 in the moths suppressed CmCPEB2 expression post-mating. These findings established CmCPEB2 as a juvenile hormone-dependent regulator of mating-induced oviposition that orchestrates vitellogenesis through yolk protein synthesis and ovarian deposition and choriogenesis via transcriptional control of chorion-related genes. This study provides novel evidence of CPEB2-mediated reproductive regulation in Lepidoptera, highlighting its dual role in nutrient allocation and structural eggshell formation during insect oogenesis and oviposition. Full article

Donkeys (Equus asinus) hold significant agricultural value in China, particularly for their hides and meat, which possess notable medicinal and dietary importance. However, their reproductive efficiency remains suboptimal compared with other livestock. Ovarian function is a key determinant of fertility, yet the molecular mechanisms underlying donkey ovarian biology remain largely unexplored. To address this gap, we performed single-cell RNA sequencing of donkey ovaries, generating a high-resolution transcriptomic atlas comprising 17,423 cells. Cross-species comparative analysis revealed a high degree of evolutionary conservation in core ovarian cell types, including endothelial, epithelial, immune, and smooth muscle cells, among vertebrates. In contrast, granulosa and theca cells exhibited distinct transcriptional profiles across species, reflecting lineage-specific adaptations. Notably, we identified key genes with donkey-specific expression patterns, including NR3C1 in endothelial cells, LIPE in granulosa cells, and DHRS9 in theca interna cells. Furthermore, an in vitro cumulus–oocyte complex model demonstrated the critical role of GATM in mammalian oocyte maturation. Collectively, these findings provide a comprehensive characterization of ovarian cell-type conservation and species-specific adaptations, offering key molecular insights into the mechanisms underlying cross-species differences in reproductive efficiency. Full article

In this study, we identified two β-hexosaminidase A isoforms (Mn-HexA1 and Mn-HexA2) in Macrobrachium nipponense through bioinformatics analysis and characterized their phylogenetic relationships. The open reading frames of Mn-HexA1 and Mn-HexA2 were 1641 bp (encoding 546 amino acids) and 1473 bp (encoding 490 amino acids), respectively. Both isoforms exhibited high conservation, sharing five identical functional domains, with 58.43% amino acid sequence similarity. Quantitative PCR analysis revealed that Mn-HexA1 expression was significantly higher than Mn-HexA2 across all developmental stages and tissues. During embryonic development, Mn-HexA1 showed elevated expression at the ZS, L15, and PL10, while Mn-HexA2 was upregulated only at L15 and PL10. In the breeding season and non-breeding season, Mn-HexA1 and Mn-HexA2 were predominantly expressed in the hepatopancreas at levels significantly higher than in other tissues. Moreover, their expression in most tissues was higher during the breeding season than in the non-breeding season. RNA interference experiments revealed that knockdown of both Mn-HexA isoforms significantly accelerated ovarian development in M. nipponense, with the Mn-HexA1-silenced group exhibiting faster progression than the Mn-HexA2-silenced group. These results demonstrate that Mn-HexA genes function as negative regulators of ovarian maturation, with Mn-HexA1 exerting a stronger inhibitory effect than Mn-HexA2. Full article

The Chinese tongue sole (Cynoglossus semilaevis) is a commercially important mariculture species; however, its fertilization and hatching rates under artificial conditions remain relatively low. Zona pellucida proteins (ZPs), which mediate sperm–egg binding, were previously identified as differentially expressed genes between newly differentiated ovaries and testes in C. semilaevis. In this study, we identified 25 ZPs of C. semilaevis through genomic analysis and classified them into five subfamilies. All genes possessed a conserved ZP domain, characteristic of the gene family from mammals to teleosts. Among them, nine genes were highly expressed in ovary cells, with the expression levels increasing during ovarian development, while another three genes were predominantly expressed in liver cells. Protein–protein interaction analysis predicted that 12 ZPs interacted with key reproductive regulators such as Gdf9, Arid4a, Arid4b, and Rbl, which were involved in steroidogenesis, sperm–egg recognition, and folliculogenesis. Functional analyses using RNA interference revealed that Cszpc7-1 knockdown in ovarian cells led to the downregulation of cyp19a, esr2, bmp15, and adamts-1, while the expression of rbl, gnas, adgrl1, and adgrl2 was upregulated. In contrast, Cszpax1 knockdown resulted in decreased expression of cyp19a, foxl2, arid4a, and zeb1, along with upregulation of arid4b, ogg1, and gdf9. These results suggested that ZP genes might contribute to ovarian homeostasis by regulating steroid hormone synthesis, follicular development, and ovulation. This study contributed to a deeper understanding of the reproductive mechanisms of C. semilaevis and provided evolutionary insights into the functional divergence of the ZP gene family across teleosts. Full article

Background: Our goal was to assess the diagnostic performance of the IOTA 3-step strategy for discriminating benign from malignant adnexal masses. Methods: Systematic review and meta-analysis design. A systematic search across three databases (Medline [PubMed], SCOPUS, and Web of Science) was conducted to identify primary studies reporting on the use of the IOTA three-step strategy from January 2012 to July 2024. Prospective cohort studies utilizing the three-step strategy, with histologic diagnosis or conservative management confirming spontaneous resolution or persistence in cases of benign-appearing masses for at least one year of follow-up, were used as the reference standard. Studies unrelated to the topic, those not addressing the IOTA three-step strategy, studies focusing on other prediction models, letters to the editor, commentaries, narrative reviews, consensus documents, and studies lacking data for constructing a 2 × 2 table were excluded. Quantitative synthesis was done, calculating the pooled sensitivity, specificity, and positive and negative likelihood ratios. Qualitative synthesis was done using QUADAS-2. Results: A total of 448 citations were initially identified, with 7 studies meeting inclusion criteria, comprising 5722 patients. The mean prevalence of ovarian malignancy was 28%. The quality of the studies was considered good. IOTA 3-step strategy showed a pooled sensitivity, specificity, positive likelihood ratio, and negative likelihood ratio of the three-step strategy for adnexal mass classification were 94% (95% CI = 91–95%), 94% (95% CI = 91–97%), 17.0 (95% CI = 10–28.8), and 0.07 (95% CI = 0.05–0.1), respectively. Heterogeneity for sensitivity was moderate, and for specificity it was high. Conclusions: We conclude that the three-step strategy has good diagnostic performance, reducing the need for expert examiner evaluation. Full article

Background: Adult granulosa cell tumours (AGCT) of the ovary account for 2–5% of ovarian tumours, with 30% occurring in women of childbearing age. Despite a good prognosis, up to 25% recur. There is a paucity of high-quality evidence to guide management. Objective: To describe management of AGCT across multiple gynaecological cancer centres. Methods: Retrospective analysis of electronic patient records from six gynaecological cancer centres in Southwest England between 2000 and 2021 (n = 119). Results: We included 107 patients with a median follow-up of 60 months (0–261 months). Most (97/107; 90.7%) were diagnosed with stage I disease (31.8% stage Ic). Primary management was staging surgery in 33/107 (30.8%), hysterectomy and bilateral salpingo-oophorectomy (BSO) (28/107; 26.2%), or conservation of an ovary (17/107; 15.9%). Three had a subsequent pregnancy. A quarter (27/107; 25.2%) were diagnosed with recurrent disease. Fifteen patients (15/107; 14%) had multiple recurrences. Recurrence was more likely if cyst rupture was reported at surgery (38.7%) compared with no rupture (14.3%; p < 0.001). The recurrence rate was higher with ovarian conservation (6/17; 35.3%) compared with BSO (21/90; 23.3%; p < 0.01), and all recurrences involved the residual ovary. Of the 11 deaths, 6 (54.5%) were attributed to progressive disease. Conclusions: Although survival with early-stage disease is good, ovarian cystectomy or unilateral ovarian conservation was associated with increased risk of recurrence. There is no conclusive evidence to support a contralateral oophorectomy in pre-menopausal women, but completion surgery should at least be considered, either immediately or after childbearing/assisted reproductive treatment. Full article

Objective: Oophorectomy is a common procedure for benign uterine conditions, historically recommended for women aged 40–45 and older due to the belief that ovarian preservation had no significant benefits. This review evaluates the literature on the optimal age for oophorectomy in women with benign conditions to assess its risks and benefits and guide clinical decision-making. Methods: A narrative review was conducted using a literature search of articles published between January 2000 and February 2025, focusing on the age-related outcomes of ovarian conservation versus removal. Results: Oophorectomy remains a complex decision in gynecological surgeries, especially among perimenopausal and postmenopausal women. Evidence supports ovarian conservation in average-risk women, highlighting reduced risks of cardiovascular disease, osteoporosis, and all-cause mortality. Conversely, oophorectomy is favored in high-risk populations, such as BRCA mutation carriers, due to significantly lower risks of ovarian and breast cancers. Despite declining rates, unnecessary oophorectomies persist, influenced by age, socioeconomic status, comorbidities, and surgical approaches. The development of a risk stratification tool offers promise for improving individualized decision-making. Conclusions: The decision to perform oophorectomy for benign conditions should be personalized, balancing patient-specific factors to optimize outcomes and long-term health benefits. Full article

Microtubule-actin cross-linking factor 1 (MACF1), also known as actin cross-linking family protein 7 (ACF7), is a giant cytolinker protein with multiple conserved domains that can orchestrate cytoskeletal networks of actin and microtubules. MACF1 is involved in various biological processes, including cell polarity, cell–cell connection, cell proliferation, migration, vesicle transport, signal transduction, and neuronal development. In this review, we updated the physiological and pathological roles of MACF1, highlighting the components and signaling pathways involved. Novel evidence showed that MACF1 is involved in diverse human diseases, including multiple neuronal diseases, congenital myasthenic syndrome, premature ovarian insufficiency, spectraplakinopathy, osteoporosis, proliferative diabetic retinopathy, and various types of cancer. We also reviewed the physiological roles of MACF1, including its involvement in adhesome formation, bone formation, neuronal aging, and tooth development. In addition, MACF1 plays other roles, functioning as a biomarker for the prediction of infections in patients with burns and as a marker for genome selection breeding. These studies reinforce the idea that MACF1 is a bona fide versatile, multifaceted giant protein. Identifying additional MACF1 functions would finally help with the treatment of diseases caused by MACF1 defects. Full article

Background: The aim of this study was to evaluate the serous borderline ovarian tumours (BOTs), the recurrence rates, and the factors affecting recurrence. Methods: A total of 165 patients diagnosed with serous BOT between 2004 and 2019 were included. The patients were evaluated in respect of age, preoperative CA125 levels, FIGO stage, tumour size, stromal micro-invasion, the presence of non-invasive implants, surgical procedures, and lymphadenectomy performed, or all that affects disease-free survival. Results: Early-stage BOT (stage I–II) was determined in 149 (90.3%) patients. Conservative surgery was performed in 57 (34.5%) patients. The non-invasive implantation was detected in 19 (11.5%) patients, and micro-invasion was determined in 31 (18.8%) patients. The median follow-up was 120 months, and recurrence was observed in 8 (4.8%) patients. The 5-year disease-free survival rate was 95.2%, and the 10-year disease-free survival rate was also 95.2%. Univariate analysis showed that elevated preoperative CA125 levels and the presence of micro-invasion were associated with poor disease-free survival outcomes. In the multivariate analysis, the presence of micro-invasion was the only independent poor prognostic factor (HR: 8.944, 95%CI: 2.060–38.833; p:0.003). Conclusions: The micro-invasion was the main factor for recurrence in patients with serous BOT. Full article

Background/Objectives: The aim of this study was the early identification of endometriosis-associated ovarian cancer (EAOC) versus non-endometriosis associated ovarian cancer (NEOC) or non-cancerous tissues using pre-surgery contrast-enhanced-Computed Tomography (CE-CT) images in patients undergoing surgery for suspected ovarian cancer (OC). Methods: A prospective trial was designed to enroll patients undergoing surgery for suspected OC. Volumes of interest (VOIs) were semiautomatically segmented on CE-CT images and classified according to the histopathological results. The entire dataset was divided into training (70%), validation (10%), and testing (20%). A Python pipeline was developed using the transfer learning approach, adopting four different convolution neural networks (CNNs). Each architecture (i.e., VGG19, Xception, ResNet50, and DenseNet121) was trained on each of the axial slices of CE-CT images and refined using the validation dataset. The results of each CNN model for each slice within a VOI were combined using three rival machine learning (ML) models, i.e., Random Forest (RF), Gradient Boosting (GB), and K-Nearest Neighbor (KNN), to obtain a final output distinguishing between EAOC and NEOC, and between EAOC/NEOC and non-tumoral tissues. Furthermore, the performance of each hybrid model and the majority voting ensemble of the three competing ML models were evaluated using trained and refined hybrid CNN models combined with Support Vector Machine (SVM) algorithms, with the best-performing model selected as the benchmark. Each model’s performance was assessed based on the area under the receiver operating characteristic (ROC) curve (AUC), F1-score, sensitivity, and specificity. These metrics were then integrated into a Machine Learning Cumulative Performance Score (MLcps) to provide a comprehensive evaluation on the test dataset. Results: An MLcps value of 0.84 identified the VGG19 + majority voting ensemble as the optimal model for distinguishing EAOC from NEOC, achieving an AUC of 0.85 (95% CI: 0.70–0.98). In contrast, the VGG19 + SVM model, with an MLcps value of 0.76, yielded an AUC of 0.79 (95% CI: 0.63–0.93). For differentiating EAOC/NEOC from non-tumoral tissues, the VGG19 + SVM model demonstrated superior performance, with an MLcps value of 0.93 and an AUC of 0.97 (95% CI: 0.92–1.00). Conclusions: Hybrid models based on CE-CT have the potential to differentiate EAOC and NEOC patients as well as between OC (EAOC and NEOC) and non-tumoral ovaries, thus potentially supporting gynecological surgeons in personalized surgical approaches such as more conservative procedures. Full article

Background and Clinical Significance: This study presents a case of a 43-year-old female with a long history of infertility, treated for uterine leiomyoma and endometrial hyperplasia, over a total observation period of 42 months. Case Presentation: Levonorgestrel intrauterine device (LNG-IUD) therapy, as a first and subsequent line of treatment, was introduced. The patient also received medroxyprogesterone acetate oral treatment. Finally, she underwent surgery for an ovarian tumor that appeared to be an ovarian adenocarcinoma concurrent with endometrial cancer. After the removal of the reproductive organ, the patient was diagnosed with synchronous low-grade endometrioid adenocarcinoma in the endometrium and a concurrent grade 2 (G2) endometrioid adenocarcinoma in the left ovary. Conclusions: The prognosis and further management largely depend on whether these are two individual neoplasms or one metastatic tumor. Considering the young age of the patients, an early disease stage, a low grade of both cancers, and favorable prognosis, most synchronous endometrial and ovarian cancers are identified as two independent primary tumors. The diagnosis of a multi-focal neoplasm is important, as in patients with endometrial cancer and ovarian metastasis, the 5-year survival rate is 30–40%, whereas in the case of individual neoplasms, it is 75–80%. Full article

Background: Programmed cell death protein 1 (PD-1), encoded by the PDCD1 gene, is critical in immune checkpoint regulation and cancer immune evasion. Variants in PDCD1 may alter its function, impacting cancer susceptibility and disease progression. Objectives: This study evaluates the structural, functional, and regulatory impacts of non-synonymous single-nucleotide polymorphisms (nsSNPs) in the PDCD1 gene, focusing on their pathogenic and oncogenic roles. Methods: Computational tools, including PredictSNP1.0, I-Mutant2.0, MUpro, HOPE, MutPred2, Cscape, Cscape-Somatic, GEPIA2, cBioPortal, and STRING, were used to analyze 695 nsSNPs in the PD1 protein. The analysis covered structural impacts, stability changes, regulatory effects, and oncogenic potential, focusing on conserved domains and protein–ligand interactions. Results: The analysis identified 84 deleterious variants, with 45 mapped to conserved regions like the Ig V-set domain essential for ligand-binding interactions. Stability analyses identified 78 destabilizing variants with significant protein instability (ΔΔG values). Ten nsSNPs were identified as potential cancer drivers. Expression profiling showed differential PDCD1 expression in tumor versus normal tissues, correlating with improved survival in skin melanoma but limited value in ovarian cancer. Regulatory SNPs disrupted miRNA-binding sites and transcriptional regulation, affecting PDCD1 expression. STRING analysis revealed key PD-1 protein partners within immune pathways, including PD-L1 and PD-L2. Conclusions: This study highlights the significance of PDCD1 nsSNPs as potential biomarkers for cancer susceptibility, advancing the understanding of PD-1 regulation. Experimental validation and multi-omics integration are crucial to refine these findings and enhance theraputic strategies. Full article

Anatomy is critical for understanding the physiological and biological adaptations of living creatures. In the case of Pseudopus apodus, an anguimorph lizard belonging to the Order Squamata, it is particularly important considering the scarce previous works on the morphology of its coelomic cavity. It is interesting to consider that, over the years, using non-invasive approaches in reptiles, such as diagnostic imaging methods, is becoming popular for both scientific and clinical purposes. For the present work, we used a total of five Pseudopus apodus individuals (two males and three females); one male and one female were whole-body examined by multi-detector computed tomography (CT) and then all were dissected following a conventional anatomical protocol. The novelty and the main contribution of our multi-detector CT study is to identify structures that had never been identified before using this technique, such as the opening of the vomeronasal organ and the choanae, the tongue, the glottis, the hyoid bone, the esophagus, the stomach, the small and large intestines, the cloaca, the liver, the gallbladder, the kidneys, the ovarian follicles, the trachea, the bronchial bifurcation, the lungs, the heart, the aortic arches, the aorta, the sinus venosus, and the cranial cava veins. On the contrary, other organs like the thyroid, the pancreas, the spleen, the ureters, the urinary bladder, the oviducts, the testes, the hemipenes, the pulmonary trunk, and the pulmonary arteries were only identified in the anatomical dissection. Thus, our results demonstrate that multi-detector CT scanning is a useful tool to identify a significant number of anatomical structures in Pseudopus apodus, which is important for clinical veterinary practice related to this species or different conservation programs, among other applications. Full article