Search Results (78)

Background/Objectives: Lens development is an essential component of visual-system development during fish embryogenesis, yet its transcriptional timing remains poorly characterized in European seabass (Dicentrarchus labrax). This study aimed to provide a stage-resolved transcriptomic characterization of lens-associated gene expression in D. labrax embryos and to relate these patterns to classical embryological stages. Methods: Publicly available RNA-seq data from embryos at the mid-gastrula, late somitogenesis, and hatching stages were analyzed. A targeted lens-associated gene set was defined using Gene Ontology annotations, with emphasis on genes assigned to the structural constituent of the eye lens category. Expression patterns were examined using normalized counts, variance-stabilized data, principal component analysis, and pairwise differential expression analysis. Results: Lens-associated genes displayed clear stage-dependent expression dynamics. Principal component analysis separated samples primarily by developmental stage, with the first two components explaining 89.3% of the total variance. The strongest biological shift occurred between mid-gastrula and late somitogenesis, when transcripts encoding β-crystallins and lens-fiber architecture components increased markedly. Among the most pronounced changes were the induction of crybb1l3 and cryba4, along with increased expression of membrane and cytoskeletal genes, such as the lim2 paralogs and bfsp1. By hatching, this structural-gene expression pattern was partly maintained, while specific crystallin-related loci, including crybg1a, showed further stage-associated increases. Conclusions: These findings define stage-specific patterns of lens-associated gene expression in D. labrax embryos and indicate that lens-associated structural gene expression is most pronounced during late somitogenesis among the stages analyzed. This work provides a useful reference for future studies of visual development in European seabass and for aquaculture-oriented investigations of early sensory ontogeny. Full article

Background and Objectives: Endometriosis is a multifactorial gynecological condition associated with impaired fertility; however, its impact on embryo competence remains incompletely understood. This study aimed to evaluate embryo competence through a stepwise analysis of IVF outcomes across the developmental continuum, while also comparing patients with endometriosis and controls. Materials and Methods: A retrospective observational study was conducted, including 160 patients undergoing IVF, comprising 55 patients with endometriosis and 105 controls. Clinical and embryological data were analyzed sequentially across key developmental stages, including oocyte retrieval, metaphase II (MII) oocyte formation, fertilization (2PN), embryo development, and euploidy in a subgroup undergoing preimplantation genetic testing for aneuploidy (PGT-A). Stage-specific efficiency rates were calculated, and correlations between early- and late-developmental parameters were assessed. In addition, comparative analysis between groups was performed. Results: A progressive decline in developmental efficiency was observed across the IVF continuum, with approximately one-quarter of retrieved oocytes reaching the embryo stage and only a small proportion ultimately resulting in euploid Blastocysts. Strong positive correlations were identified among early-stage parameters, particularly retrieved oocytes, MII oocytes, and embryo yield (r = 0.77–0.96, p < 0.001), indicating that ovarian response and oocyte maturity significantly influence downstream outcomes. However, efficiency-based parameters showed limited predictive value for chromosomal competence. A moderate association was observed between MII oocytes and euploid Blastocysts (r = 0.58), whereas the relationship between embryo number and euploidy remained weak. Comparative analysis revealed no statistically significant differences between the endometriosis and control groups across the evaluated embryological parameters (p > 0.05 for all comparisons), suggesting that sequential analyses may provide complementary insight beyond direct comparisons. Conclusions: IVF outcomes follow a sequential developmental trajectory with a progressive decline in efficiency across stages. In endometriosis, early developmental competence appears to be affected, while chromosomal competence remains relatively preserved. Full article

Background/Objectives: Congenital gastrointestinal malformations (CGIMs) are important causes of neonatal surgical morbidity with potential long-term consequences. Although some can be suspected on prenatal ultrasound, data on their clinical spectrum, burden, and distribution remain limited in Eastern Europe. This study aimed to describe the diagnostic spectrum, timing of diagnosis, documented prenatal ultrasound suspicion, and the early outcomes of CGIMs managed at a Romanian tertiary referral centre between 2020 and 2024, a period overlapping the COVID-19 pandemic. Methods: We conducted a retrospective, single-centre observational study including all consecutive paediatric patients with a CGIM admitted between January 2020 and December 2024. Cases were analysed by index anatomical diagnosis, phenotypic complexity, and etiologic background. Logistic regression was used to examine factors associated with documented prenatal suspicion and in-hospital mortality, and annual hospital-based CGIM admission rates were modelled with Poisson regression, using the number of paediatric surgical admission as the offset. Results: Among the 231 children (58.9% male), the most frequent diagnoses were persistent omphalomesenteric duct remnants (16%), oesophageal atresia with or without tracheoesophageal fistula (15.6%), and anorectal malformations (13.9%). Documented prenatal ultrasound suspicion was present in 17.7% of pregnancies (41/231) and was likely underestimated because antenatal documentation was unavailable for 17.7% of the cohort. The highest proportions of documented prenatal suspicion were observed in jejuno-ileal and duodenal atresia. Foregut malformations were the most common by embryological grouping (93/231, 40.3%). Most cases were diagnosed during the neonatal period (n = 161, 69.7%). CGIM admission rates per 1000 surgical admissions ranged from 20.8 to 38.2. An exploratory Poisson model yielded a hospital-based rate ratio per calendar year of 0.88 (95% CI 0.81–0.97; p = 0.008). However, given the limited number of annual observations and increasing total surgical admissions, this finding should be considered exploratory and hypothesis-generating only. Complex cases accounted for 8.2% and associated extra-intestinal anomalies were present in 70.1%. In-hospital mortality was 13.0% and occurred predominantly in patients with complex or foregut malformations. In the primary complete-case multivariable model, prematurity remained independently associated with mortality, whereas complex CGIMs were not independently associated with mortality after adjustment. A prespecified multiple-imputation sensitivity analysis yielded a stronger estimate for complex CGIMs, but this finding was interpreted cautiously and not treated as a primary result. Conclusions: In this tertiary referral cohort, documented prenatal suspicion of CGIM was low and strongly diagnosis-dependent, while most cases were identified in the neonatal period. Mortality was concentrated in foregut and clinically complex presentations in the descriptive analysis, while prematurity remained independently associated with death in the primary multivariable model. These findings highlight the need to strengthen prenatal referral pathways and coordinated national surveillance. Full article

Purpose: Tumor location influences survival in bladder cancer, potentially due to genetic heterogeneity driven by distinct embryological origins and structural compositions. We investigate location-specific somatic gene alterations (GAs) and their potential clinical implications in muscle-invasive bladder cancer (MIBC). Methods: We explored the role of the intra-bladder tumor location in determining survival and underlying genetic alterations in MIBC patients using multiple large independent databases. We analyzed the tumor location’s impact on survival using the Surveillance, Epidemiology, and End Results (SEER) database and validated these findings using cBioPortal (CBP), which also contains gene sequencing data, enabling a comparison of GA frequency by tumor location. We investigated GA combinations to identify potential synthetic lethal (SL) combinations and co-occurrence signatures for survival prediction. Using the ROC Plotter database, we explored how significantly altered genes affect the response to immune checkpoint inhibitors (ICI). Results: An analysis of 6712 SEER and 570 CBP patients revealed significant (p < 0.001) differences in overall survival stratified by tumor location, with trigone tumors showing the worst survival. Genomic analysis identified 35 genes with location-specific alteration frequencies. Three of these genes, CDKN2A, SPTAN1, and BIRC6, were significantly predictive of ICI response, and three genes were uniquely associated with a specific location: BPTF (anterior wall), RYR1, and OBSCN (dome). Furthermore, we identified 349 SL pairs from the 35 significantly altered genes, and a co-occurrence analysis revealed two novel gene pairs associated with improved survival. Conclusions: Intra-bladder tumor location determines survival and distinct genetic profiles in MIBC. These location-specific alterations predict ICI response and identify novel synthetic lethal targets, guiding precision oncology. Full article

Congenital thoracoabdominal wall defects in dogs are uncommon and challenging to classify due to their overlapping anatomical and developmental features. This study analyzes three original canine cases alongside 17 published cases to clarify the relationships among Cantrell syndrome (CS), amniotic band syndrome (ABS), and body stalk anomaly (BSA). All of the original cases exhibited thoracoabdominal involvement with variations in umbilical cord morphology and associated anomalies. A comparative analysis revealed that these conditions form a syndromic continuum rather than distinct entities, influenced by the timing and mechanism of embryonic disruption. Early developmental insults were associated with multisystem malformations resembling CS or BSA, whereas later vascular disruptions produced more localized defects, such as gastroschisis. Umbilical cord morphology emerged as a key diagnostic discriminator across cases. Based on these findings, we developed an anatomically driven diagnostic decision tree to support clinical evaluation when information is incomplete. This study emphasizes the importance of integrating embryologic context with anatomical assessment and identifies significant gaps in molecular and genetic data. A developmental continuum model offers a more flexible, clinically meaningful framework for diagnosing congenital body wall defects in dogs. Full article

Background and Objectives: This study aimed at developing an AI-based predictive model for live birth based on a combination of a support vector machine (SVM) using clinical and embryological features, together with a convolutional neural network (CNN) using embryo time-lapse videos. Materials and Methods: This was a retrospective cohort analysis. Two hundred fifty-nine infertile couples treated between January 2012 and December 2019, with a total of 2330 embryos, were included in this study, and clinical data and images from 355 transferred embryos were used to build a predictive model. The main outcome was accuracy of live birth prediction. The secondary outcomes included accuracy in the prediction of biochemical pregnancy, clinical pregnancy and transferrable embryos. Results: The model was able to predict the transferrable embryo (i.e., embryos suitable for transfer or cryopreservation) with an accuracy of 0.98 in an internal set. The accuracy for predicting live birth, clinical pregnancy, and biochemical pregnancy exclusively using clinical data as input for an SVM model was 0.67, 0.68, and 0.67, respectively. With six frames from time-lapse embryo development, the CNN produced an accuracy of 0.57, 0.67, and 0.72. The predictive model performed best when combining input from clinical data and images from multiple embryo developmental frames, obtaining 0.71, 0.73, and 0.77 for predicting live birth, clinical pregnancy, and biochemical pregnancy. Conclusions: This study highlights the potential of combining clinical data and embryo development images to enhance predictive models in reproductive medicine. Full article

Objective: In this study, we aimed to develop and internally validate a clinically applicable nomogram for predicting live birth following in vitro fertilization (IVF) using routinely available clinical and embryological parameters. Methods: This retrospective study was conducted at a single tertiary IVF center. Women undergoing IVF/ICSI were included if their baseline demographic and clinical data were available, they had undergone at least one fresh or frozen–thawed embryo transfer, and they had a known live birth outcome. Women with cycles without embryo transfer and those missing key outcome data were excluded from the analysis. As a result, a total of 2119 IVF/ICSI treatment cycles resulting in embryo transfer were included in the analysis. To identify independent predictors of live birth, multivariable logistic regression analysis was performed. Results: Among the 2119 treatment cycles analyzed, 541 resulted in live birth (25.5%). Multivariable logistic regression with backward stepwise selection identified female age (OR: 0.959, p < 0.001), high embryo quality (OR: 2.752, p < 0.001), day of embryo transfer (day 5 vs. day 3, OR: 1.427, p = 0.001), and endometrial thickness on the day of transfer as independent predictors of live birth (OR: 1.086, p < 0.001). These variables were incorporated into a nomogram (the Zübeyde Hanim IVF Nomogram) to estimate individualized live birth probability. The model demonstrated acceptable discrimination, with a bootstrap-corrected area under the receiver operating characteristic curve (AUC) of 0.64 (95%CI: 0.61–0.66), and it showed satisfactory calibration across deciles of predicted risk. Conclusions: The Zubeyde Hanim IVF Nomogram provides an individualized and clinically practical tool for predicting live birth following IVF treatment. Based on routinely available parameters, this model may assist clinicians in patient counseling and treatment planning. Full article

Background: Intrapericardial extralobar pulmonary sequestration (ELPS) is an exceptionally rare congenital malformation. The location may mimic neoplastic lesions and poses diagnostic and surgical challenges. We present a new case and a systematic review of the literature. Case Presentation: A 3-month-old male infant was referred for evaluation of a congenital intrathoracic mass suspected to be an extralobar sequestration. However, intrapericardial location was not recognized. MRI and CT demonstrated a circumscribed lesion with arterial supply from the right pulmonary artery. Thoracoscopic exploration was attempted but converted to sternotomy. The mass was excised en bloc. Histopathological analysis confirmed extralobar pulmonary sequestration with cystic components, consistent with a hybrid lesion. Postoperative recovery was uneventful. Methods: A systematic literature review was conducted according to PRISMA guidelines across PubMed, Scopus and Embase databases, including only histologically confirmed intrapericardial ELPS. Results: Ten cases were identified. Including the present case, eleven cases have been reported. Prenatal detection occurred in 54% of cases. Fetal demise occurred in two cases due to cardiac tamponade. Aberrant arterial supply originated from the pulmonary arteries in 54% of patients and venous drainage into the right atrium or superior vena cava in 45%. Surgery via sternotomy was performed in all cases with excellent outcomes. Conclusions: Intrapericardial ELPS is an exceptionally rare but surgically curable entity. Early recognition and complete resection are essential to prevent life-threatening complications. This systematic review highlights a consistent vascular pattern supporting its classification as a unique embryologic variant within the CPAM–sequestration spectrum. Full article

Background: The leptomeninges, comprising the arachnoid and pia mater, serve essential roles in protecting the brain and facilitating cerebrospinal fluid (CSF) circulation. Their significance extends beyond structural support, affecting brain development and function. Methods: This study synthesizes findings from various anatomical, embryological, and neuroimaging research to elucidate the complexities of the leptomeninges. Key methodologies include historical anatomical analysis, contemporary imaging techniques, and examination of pathological states. Results: The review highlights the role of leptomeningeal structures in CSF dynamics, neurovascular interactions, and their involvement in conditions such as hydrocephalus and neurodevelopmental disorders. These insights underscore the leptomeninges’ critical involvement in both normal physiology and disease states. Conclusions: Understanding the intricacies of leptomeningeal anatomy and function is vital for advancing diagnostic and therapeutic approaches in neurodegenerative disorders. This knowledge may facilitate better management strategies in clinical practice, particularly concerning conditions that disrupt CSF flow and brain health. Full article

Background: Congenital cheek sinuses are exceedingly rare craniofacial anomalies, typically present at birth and often misdiagnosed due to their resemblance to dermal pits or dimples. Only a few cases have been reported in the literature. This case is notable for its histopathological confirmation as a type II first branchial cleft anomaly containing an accessory tragus, highlighting the embryologic and clinical overlap between congenital cheek sinuses and branchial cleft anomalies. Case presentation: We report a three-year-old boy presenting with a congenital dimple along the right nasolabial fold. The lesion was present since birth and occasionally discharged clear fluid but had no history of infection or inflammation. Imaging demonstrated a subcutaneous tract without communication to the oral cavity or parotid gland. Under general anesthesia, surgical excision was performed, and the sinus tract was dissected in continuity to a cartilaginous remnant. Histopathologic analysis confirmed the presence of an accessory tragus consistent with a type II first branchial cleft anomaly. The patient’s postoperative recovery was uneventful, and at three months’ follow-up, there was no recurrence and an excellent cosmetic outcome. Conclusions: This case emphasizes the importance of considering branchial cleft anomalies in the differential diagnosis of congenital cheek sinuses. Although these lesions may appear benign and superficial, histopathological confirmation is critical for accurate classification. Complete surgical excision remains the definitive treatment, ensuring both diagnostic clarity and favorable aesthetic results. Increased awareness of such rare anomalies can improve diagnostic accuracy and surgical planning, particularly with respect to their potential proximity to critical facial structures. Full article

The thymus and parathyroid glands share a common embryological origin from the third pharyngeal pouch, yet their potential morphological and functional interconnections remain insufficiently explored. We conducted a comparative study integrating immunohistochemistry (IHC) and SEM on human thymic tissue, parathyroid adenomas, and parathyroid tissue excised during thyroidectomy. IHC staining targeted Thymosin-α1, CaSR, and PTH1R, with semi-quantitative evaluation of staining intensity and distribution. SEM analysis was performed at multiple magnifications to assess stromal organization and microvascular relief. Non-parametric statistical tests (Kruskal–Wallis with Mann–Whitney post hoc comparisons) were applied to clinical and laboratory data across the three cohorts. Scanning electron microscopy (SEM) revealed convergent ultrastructural features between thymus and parathyroid, including reticular stromal meshes and vascular grooves suggestive of comparable microcirculatory organization. IHC demonstrated robust Thymosin expression in thymus, with heterogeneous/apical distribution in parathyroid tissue; CaSR showed strong membranous and cytoplasmic expression in parathyroid, but weak diffuse signal in thymus; PTH1R exhibited low-to-moderate expression in thymus and moderate heterogeneous expression in parathyroid, with apical accentuation in adenomas. Statistical analysis confirmed significant differences in ionized calcium, PTH, and anti-AChR titers among the three cohorts (all p < 0.001), while TSH and calcitonin did not differ significantly. Our findings strengthen the hypothesis of a morpho-functional parathyroid–thymus axis. The robust parathyroid expression of CaSR and PTH1R aligns with established roles in calcium–PTH homeostasis, while the novel detection of Thymosin in parathyroid tissue suggests an expanded functional repertoire. These results highlight a continuum between embryological proximity and adult tissue cross-talk, with potential clinical implications for parathyroid pathology and immune regulation. Full article

Background/Objectives: Infertility affects ~10–15% of couples of reproductive age, and assisted reproductive technologies (ARTs) increasingly rely on biomarkers to individualize care. This study aimed to investigate the relationship between serum anti-Müllerian hormone (AMH) levels and embryo quality and pregnancy outcomes in patients undergoing intracytoplasmic sperm injection (ICSI). We specifically evaluated whether AMH predicts embryo competence and clinical pregnancy beyond its established role in ovarian reserve assessment. Methods: This retrospective study included 1990 women undergoing ICSI between 2010 and 2023, categorized into three groups (G1–G3) based on antral follicle count (AFC). Embryo morphology was graded using ASEBIR criteria with prospectively maintained lab SOPs. Clinical, embryological, and pregnancy parameters were compared using non-parametric tests, ROC analysis, and logistic regression. The primary outcome was clinical pregnancy; biochemical pregnancy was recorded; live birth was not available and is acknowledged as a limitation. Results: Higher AMH levels correlated with increased AFC and oocyte yield (all p < 0.001) but showed no clinically meaningful association with high-grade embryos (Grade 1–2) or pregnancy. ROC analyses demonstrated limited discrimination for AMH (AUC ≈ 0.49); by contrast, age and FSH showed modest discrimination (AUC 0.56 and 0.55, respectively), and embryo-level features (pronuclear count, Grade 1 and Grade 3 counts) were statistically significant yet of limited clinical utility (AUCs near 0.5) Conclusions: AMH is robust for ovarian reserve and response prediction but is a weak predictor of embryo morphology and clinical pregnancy. Outcome prediction in ART should integrate age, FSH, and embryo morphology (and, where available, sperm quality) rather than AMH alone. Prospective, multicenter studies with live birth as the primary endpoint are warranted. Full article

The development of epidermis plays a central role in driving the morphogenesis of the Caenorhabditis elegans embryo. However, current research on epidermal morphogenesis focuses disproportionately on overt phenotypic abnormalities, potentially overlooking the crucial role of developmental timing. In this study, we developed a modular two-step deep learning-based image analysis pipeline. First, we used ResU-Net to extract completely developed embryos and suppress noise; second, ResNet was used to predict the corresponding embryonic stage. The predicted probabilities and their corresponding embryonic time points were subsequently utilized to construct a developmental timeline. Combining this pipeline with differential interference contrast time-lapse microscopy, we dynamically tracked the timeline of epidermal morphogenesis in RNAi-treated embryos (ajm-1, tes-1, leo-1) and mutant embryos (clk-1). By statistically comparing the duration of each embryonic stage, our approach enabled the detection of stage-specific developmental timing without relying on overt phenotypic abnormalities or fluorescent markers, successfully recapitulating and extending the known roles of these genes from a temporal perspective. Our work underscores the importance of incorporating developmental timing into morphogenetic analysis, offering a novel framework for revealing subtle developmental processes, deepening the understanding of morphogenetic dynamics, and bridging the methodological gap in C. elegans embryology. Full article

Among mammals, bats are the only species capable of powered flight, which is made possible by their highly evolved wings. The wings of bats are highly specialized, composed of skin membranes that extend from their forelimbs, hindlimbs, and elongated finger bones, forming the structural foundation for flight. Previous research has extensively examined bat wings from various perspectives, including tissue embryology, structural morphology, and aerodynamics. These studies have focused on the origins of bat wings, their embryonic development, as well as the muscles and skeletal structures involved in flight, laying a crucial theoretical foundation for understanding the development and evolution of bat flight. In addition to structural aspects, physiological processes like the high metabolic rate, energy supply, and oxidative stress responses required for sustained bat flight have also been investigated. This review aims to explore various factors influencing the development of bat flight capabilities, with particular attention to the relationship between wing morphology and flight behavior, highlighting the importance of investigating bat flight capabilities within the context of echolocation calls development. From the perspective of bat wings, this review proposes an integrated analysis of related factors affecting the unique and intricate characteristics of bat flight capabilities, offering new perspectives and approaches for future studies in developmental and evolutionary biology. Full article

Alzheimer’s disease (AD) is a progressive neurodegenerative condition with increasing global prevalence. As early diagnosis becomes critical for timely symptomatic management, noninvasive and easily accessible biomarkers are needed. Given the shared embryologic origins between the eye and the brain, ocular imaging has emerged as a promising diagnostic technique. This review summarizes the associations between AD, ocular imaging and fluid biomarkers in the anterior and posterior segment. We also describe the underlying pathophysiology that explains the connections between each ocular structure and the brain in the context of AD. Optical coherence tomography (OCT), OCT angiography, and fundus photography are the most common imaging modalities utilized in AD research. However, these techniques may or may not be feasible in primary care or neurologic clinical settings. Compared to plasma biomarker analysis, which is minimally invasive and nearing clinical implementation, ocular biomarkers remain primarily valuable in research investigations. Full article