Search Results (992)

Background: Pleomorphic rhabdomyosarcoma (RMS) is a rare, adult-predominant high-grade sarcoma that usually arises in the deep soft tissues of the extremities. Primary oral pleomorphic RMS is exceptionally rare, and detailed CT and MRI characteristics of oral pleomorphic RMS remain sparsely documented. Case Presentation: A 66-year-old woman presented with a two-month history of lower anterior tooth pain and progressive mandibular swelling, initially misdiagnosed and treated as a dental infection. CT and MRI revealed a 3.8-cm heterogeneously enhancing mass centered in the mandibular gingiva, with aggressive cortical destruction, diffusion restriction, and anterior floor-of-mouth extension; oral cavity cancer (squamous cell carcinoma) was initially favored on imaging. The patient underwent wide excision with segmental mandibulectomy and fibular osteocutaneous free-flap reconstruction. Histopathologic examination confirmed a high-grade pleomorphic RMS with immunoreactivity for desmin and MyoD1. The patient received adjuvant chemotherapy and radiotherapy, with no recurrence at 8-month follow-up. Conclusions: Pleomorphic RMS of mandibular gingiva may be mistaken clinically for odontogenic infection and radiologically for squamous cell carcinoma. Although imaging findings are nonspecific, CT and MRI are essential for defining mandibular and floor-of-mouth involvement and planning resection; definitive diagnosis requires histopathologic and immunohistochemical confirmation. Full article

The impact of epigenetic mechanisms on molecular and cellular processes of regeneration remains a less-investigated field, especially concerning earthworm segment restoration. To evaluate distinct methylated cytosines under different conditions, earthworm segments were collected: decitabine-treated and controls; anterior and posterior amputation; intact and regenerated (2- and 4-week). 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) distribution in tissues was assessed by immunohistochemistry (IHC), and in genomic DNA by dot blot. DNA-methyltransferase (DNMT) and ten-eleven translocation (TET) dioxygenase activity was determined by immuno-based colorimetry. DNMT1 and TET gene expressions were verified with real-time PCR. Decitabine treatment reduced 5mC levels in most tissues, persisting in the anterior coelomic cavity (intact and blastemas). 5hmC remained elevated in most tissues, remarkably in 2-week blastemas. In the same period, DNMT and TET presented the highest activity in anterior treated samples compared to other treated periods. Concurrently, DNMT1 gene expression increased prominently in anterior segments, while TET showed the highest expression in both anterior and posterior 2-week treated groups. Thus far, our observations indicate that, despite decitabine’s effect on the DNA methylation machinery of the earthworm model, the region of amputation and the regeneration period also interfere with activity and expression of epigenetic enzymes, affecting 5mC and 5hmC distribution. Full article

The currently common procedures in orthognathic surgery are widely used. Different forms of skeletal malocclusion can be treated with great outcomes in terms of bite, bone harmony, function, improved mastication, esthetics, and even decreased problems with breathing. Each type and intensity of malocclusion may affect decision-making in terms of distraction, selection of osteotomy design, or even guide clinical and surgical decisions to use a less popular osteotomy protocol. CBCT (cone-beam computed tomography) is currently a milestone in the establishment of the condition of jaw bones, bone structure, temporomandibular joints, and central relation (CR), as well as the scope of maxilla–mandibular and tooth relations. When establishing all of the following in a clinical and radiological (CBCT-based) evaluation, it becomes possible to measure the occlusal plane, height, length, and three-dimensional position of each dental segment, as well as other dentoalveolar features. In the present case, CBCT helped distinguish a localized vertical anterior mandibular dentoalveolar discrepancy from generalized mandibular malposition and supported the planning of a mandibular anterior segmental subapical osteotomy (MASSO) by mapping the osteotomy corridor in relation to the dental roots, cortical bone, periapical bone height, and neurovascular structures. Significant therapeutic complexity emerges when severe skeletal Class III malocclusion (mandibular prognathism) is compounded by transverse maxillary discrepancies and a markedly elevated mandibular anterior segment. This constellation of deformities leads to profound disturbances in the anterior facial height, a disrupted maxillomandibular interincisal relationship, and the loss of a level occlusal plane. The presented case highlights how the patient’s clinical evaluation should be carefully compared with radiological data, status of both cortices in the mandible, the height of the mandibular anterior segment, presence of gum recessions and poor bone status that may affect healing, osteotomies, and occurrence of some unwanted events. Therefore, CBCT was useful not only for diagnosis and planning, but also for understanding the biological limits of movement and the risk of postoperative periodontal complications in this uncommon reversed Köle-type MASSO. Full article

Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal recessive disorder of the corneal endothelium caused by biallelic variants in the SLC4A11 gene. Its genetic spectrum is well described in the Indian subcontinent, but poorly characterized in the Saudi population, where high rates of consanguinity may concentrate specific alleles. We performed whole-exome sequencing in 47 clinically diagnosed CHED patients from consanguineous Saudi families and classified the resulting variants by their predicted effect on the protein. A homozygous SLC4A11 variant was identified in every patient, and no compound heterozygotes were found. The 47 patients carried 20 unique variants, three of which were novel: c.1799C>A; p.A600E, c.2623C>T; p.R875*, and c.670dup; p.W224Lfs*7. Seven variants recurred, and the canonical splice donor change c.2018+1G>A alone accounted for 14 patients. The variants resolved into two mechanistic groups: 22 patients with missense substitutions predicted to misfold the protein and cause endoplasmic reticulum retention, and 25 with truncating or splice variants predicted to abolish the protein. Among those, only the p.R875* sequence variant removes only the final 17 residues, is predicted to escape nonsense-mediated decay, and likely leaves a near-full-length protein. Five of the nine missense variants were glycine-to-arginine substitutions clustered between residues 378 and 413, within the first transmembrane region. The complete detection rate supports genetic homogeneity of CHED in this population and contrasts with the substantial fraction of unsolved cases reported elsewhere. The concentration of variants in a few regions of the gene suggests that a targeted Sanger protocol covering these hotspots could serve as an affordable first-line diagnostic test, with exome sequencing reserved for hotspot-negative patients. Full article

Vernal keratoconjunctivitis (VKC) is a chronic pediatric ocular allergy that can progress from seasonal to persistent inflammation with vision-threatening complications. Although Th2-associated mechanisms have been implicated, the immune correlates of disease severity are not well defined. Tear samples from VKC patients (moderate intermittent and moderate persistent) and healthy controls were collected using Schirmer’s strips. Cytokine profiling was performed using the OLINK^® Target 48 Cytokine Panel. Differential expression, correlation with clinical features, and pathway enrichment analyses were performed. Compared to control, IL-15, CXCL11, CXCL9, MMP12, and CCL13 were significantly elevated in VKC, with higher levels in the persistent phenotype. These cytokines correlated with symptom duration, limbal involvement, and papillary hypertrophy. Pathway analysis revealed enrichment of IL-17, JAK–STAT, and chemokine signaling pathways. VKC severity is associated with distinct tear cytokine signatures, with the persistent phenotype showing enhanced chronic inflammatory signaling. These findings identify candidate tear-based markers of disease severity that require validation in larger, independent, and longitudinal cohorts. Full article

Background/Objective: Whereas conventional flanged intrascleral fixation is limited to 3-piece intraocular lenses (IOLs), we developed and evaluated a novel haptic-extended flange technique for single-piece acrylic IOLs, including presbyopia-correcting and toric lenses. Methods: In this technique, a 6-0 polypropylene suture is secured along the lateral aspect of the single-piece IOL haptic to extend its length, followed by intrascleral flange fixation. Uncorrected visual acuity (UCVA) from far to near, corrected distance visual acuity (CDVA), and refraction were evaluated at 1 month postoperatively. IOL tilt and decentration were assessed using anterior segment optical coherence tomography. Results: This study included a consecutive series of 10 eyes of 10 patients (mean age: 58.3 ± 16.2 years), comprising 5 eyes with multifocal IOL, 2 eyes with multifocal toric IOL, 2 eyes with enhanced monofocal IOL, and 1 eye with monofocal IOL. All IOLs were securely fixed; the mean IOL tilt was 5.74 ± 2.93° and the mean decentration was 0.35 ± 0.19 mm. All eyes achieved CDVA of 20/20 or better, and all eyes with multifocal IOLs achieved UCVA at 40 cm of 20/25 or better. No early postoperative complications attributable to the surgical procedure were observed. In a case associated with atopic dermatitis, retinal detachment occurred 4 months after surgery. Conclusions: In this preliminary case series, haptic-extended flange fixation enabled early stabilization of selected single-piece acrylic IOLs with favorable short-term visual and anatomic outcomes. Larger studies with longer follow-up are needed to confirm long-term safety, durability and comparative effectiveness. Full article

This paper proposes a novel methodology to help clinicians automatically diagnose spinal stenosis, one of the leading causes of chronic lower back pain (CLBP), from lumbar spine Magnetic Resonance Imaging (MRI) scans. The approach mirrors standard clinical practice, in which spinal canal stenosis is diagnosed by manually inspecting lumbar spine MRI scans. Detection is achieved by segmenting the area between the anterior and posterior vertebral elements (AAP) and then locating the key points within the delineated boundaries. Semantic segmentation and a Fine Gaussian Support Vector Machine (SVM) are used to perform this delineation, achieving pixel accuracies of 94% and 92%, respectively. An anonymized dataset of 101 patients is used, in addition to the radiologist’s report for each patient, to compare the system’s results with the corresponding reports. The minimum and maximum diagnostic accuracies achieved by the developed methodology were 76.5% and 90%, respectively. The results show that the developed methodology can speed up the diagnosis process for patients with chronic lower back pain, thereby saving lives and time and reducing costs. Full article

Objective: To determine and compare the center of resistance (Cres) for maxillary protraction in fused and patent palatal suture models using three-dimensional finite element analysis. Study design: A three-dimensional craniofacial model was constructed from CBCT data of a 10-year-old female with maxillary hypoplasia. Models with fused and patent palatal sutures were created. Finite element analysis evaluated displacement patterns following anteroposterior forces (10 N) at different vertical positions (H1–H4) and superoinferior forces (10 N) at different sagittal positions (V1–V5). The force application site producing the most uniform displacement with minimal rotation was identified as the Cres. Results: In the fused palatal suture model, the Cres was located at H3.3 (infraorbital rim level, 15 mm superior to the line midway between the occlusal plane and the infraorbital rim.) for anteroposterior loading and at V3.6 (slightly distal to the lower border of the zygomatic process, 15 mm anterior to the posterior nasal spine) for superoinferior loading. In the patent palatal suture model, the Cres remained at similar levels but shifted laterally, requiring force application 20 mm lateral to the midpalatal suture to achieve translational movement. Force application closer to the midpalatal suture caused the maxillary segments to diverge anteriorly and converge posteriorly, whereas force application at the lateral maxillary rim produced the opposite rotational pattern. Conclusion: The Cres of the nasomaxillary complex was consistently located near the infraorbital rim under anteroposterior loading and slightly distal to the zygomatic process under superoinferior loading in both suture configurations. In patent sutures, optimal translational movement required bilateral force application 20 mm lateral to the midpalatal suture. These findings provide subject-specific biomechanical information that may assist in the design and evaluation of maxillary protraction force systems. Full article

Objectives: To evaluate associations between shrinkage of ablated liver area on computed tomography (CT) over time after radiofrequency ablation (RFA) and clinical parameters related to liver function and fibrosis. Methods: Patients with hepatocellular carcinoma who underwent RFA and follow-up CT were retrospectively reviewed. The ablated area volume (AAV) on CT obtained within 1 week and around 6 months after RFA was measured, and reduction rate of AAV was calculated. The AAV reduction rate was compared among Child-Pugh classification, modified albumin-bilirubin (mALBI) grades, FIB-4 index categories, and lesion locations using generalized estimating equations (GEE). Univariable and multivariable GEE analyses were performed to evaluate associations between the AAV reduction rate and clinical parameters. Results: Fifty-three lesions in 41 patients (median age, 76 [range, 38–88] years, 24 men) were evaluated. The AAV reduction rate was significantly lower in Child-Pugh class B than class A (p < 0.001) and in mALBI grade 2b than grade 1 (p < 0.001) or grade 2a (p = 0.004). Significant differences were also observed among FIB-4 index groups (p < 0.001) and among lesion locations, with lower AAV reduction rates in medial and anterior segments than in lateral (p < 0.001) and posterior (p = 0.017) segments. Univariable GEE analyses showed significant associations between AAV reduction rate and cholinesterase, albumin, total bilirubin (T-Bil), prothrombin time, platelet count, and FIB-4 index (p < 0.05). Multivariable GEE analysis demonstrated that both albumin and T-Bil remained independently associated with AAV reduction rate (p < 0.001). Conclusions: The AAV reduction rate tended to be lower in patients with impaired liver function and advanced liver fibrosis. Full article

Background/Objectives: Glaucoma represents a progressive optic neuropathy and is the leading cause of irreversible blindness worldwide. The disease is classified as primary angle-closure glaucoma (PACG) or as primary open-angle glaucoma (POAG) depending on the iridocorneal angle. Although gonioscopy remains the gold standard investigation, anterior segment optical coherence tomography (AS-OCT) may provide important data about these structures, offering a quantitative assessment of the angle. The purpose of this study is to evaluate AS-OCT parameters in patients with primary angle-closure disease (PACD). Methods: This retrospective exploratory study included 75 eyes from 60 patients with PACD, classified as primary-angle closure suspect (PACS), primary-angle closure (PAC) and PACG. Participants underwent comprehensive ophthalmic examination: best-corrected visual acuity (BCVA), gonioscopy, AS-OCT, optic nerve OCT, visual field examination, and specular microscopy. Associations between AS-OCT angle parameters, intraocular pressure (IOP), and ocular biometrics were assessed using correlation analyses with Benjamini–Hochberg correction for the primary analyses and generalized estimating equation (GEE) models to account for inter-eye correlation. Results: In the overall PACD cohort, AS-OCT angle parameters were inversely associated with IOP, with all primary correlations remaining significant after multiple-testing correction. GEE analysis confirmed significant associations for TISA500, AOD500, and AOD750. Exploratory analyses in the PACS, PAC and PACG subgroups were not significant after correction for multiple testing, while anterior segment biometric parameters showed expected intercorrelations. Conclusions: Quantitative angle parameters demonstrated robust inverse associations with IOP in the overall PACD cohort. These exploratory findings support the complementary role of AS-OCT in the PACD anatomical evaluation and warrant confirmation in larger prospective studies to determine their clinical and prognostic relevance. Full article

Background: Chronic kidney disease (CKD) is characterized by persistent inflammation, metabolic dysregulation, and mineral and bone disorder (CKD-MBD), all of which may affect ocular tissues. While retinal manifestations of CKD have been increasingly investigated, data regarding clinical anterior segment modifications and their relationship with systemic biochemical parameters remain limited. Methods: We performed a cross-sectional study including 130 participants: 53 non-CKD subjects, 29 patients undergoing maintenance hemodialysis (HD), and 48 kidney transplant recipients (KTRs). All participants underwent comprehensive ophthalmic examination, including best-corrected visual acuity (BCVA), intraocular pressure (IOP) measurement using Goldmann applanation tonometry, Schirmer I test, tear break-up time (TBUT) and assessment of cataract and blepharitis prevalence. Serum creatinine estimated glomerular filtration rate (eGFR), calcium, phosphate, parathyroid hormone (PTH), magnesium, 25-hydroxyvitamin D, and Activin A were recorded. Associations between ocular and systemic parameters were evaluated using correlation and regression analyses. Results: TBUT, Schirmer I and IOP did not differ significantly among groups (all p > 0.05). After adjustment for age, sex, BMI and diabetes mellitus (DM), HD patients showed worse visual acuity than the non-CKD reference group, reflected by higher logMAR BCVA values (adjusted B = +0.128, p = 0.024). In KTRs, higher corrected calcium was independently associated with reduced tear film parameters, correlating with both shorter TBUT (B = −0.903, p = 0.037) and lower Schirmer I values (B = −5.947, p = 0.008). Circulating Activin A increased progressively from controls to KTR to HD patients (median 189.5 vs. 273.0 vs. 314.0 pg/mL, p < 0.001) but showed no independent association with any anterior segment parameter; it was instead associated with cumulative glucocorticoid exposure (B = +1.602, p = 0.024). Conclusions: In CKD, clinical anterior segment and ocular surface differences were largely explained by age, sex, and comorbidity rather than renal replacement modality, with visual acuity deficit persisting in HD after adjusting for these covariates. At the individual level, corrected calcium was the parameter most consistently associated with tear film parameters in KTRs, whereas elevated Activin A was not independently associated with ocular involvement and likely reflects systemic disease activity. Full article

Anterior segment optical coherence tomography (AS-OCT) is essential for structural assessment of the anterior eye, yet automated landmark localization remains challenged by pervasive speckle noise, indistinct tissue interfaces, and labor-intensive manual annotation with notable inter-observer variability. This study presents NSE YOLO, an enhanced YOLOv11 framework for high-precision landmark localization in AS-OCT images after implantable collamer lens (ICL) implantation. It integrates a dual-branch NewConv module for multi-scale feature extraction, a dual-additive residual self-attention block (SABlock) to suppress background interference, and a Mamba-based EfficientViMBlock embedded in the C3k2 module to balance global contextual modeling and computational efficiency. Validated on 672 expert-annotated postoperative ICL images from 60 patients, NSE YOLO achieved an mAP@0.5 of 90.7% and mAP@0.5:0.95 of 85.1%, outperforming the YOLOv11 baseline by 5.2% and 6.6% with only 2.86 million parameters. Bland–Altman analysis showed negligible systematic bias and narrow limits of agreement for anterior chamber depth. For iridocorneal angle measurements, directional deviations and wider limits of agreement were observed, with performance approaching the level of inter-observer variability among human annotators. NSE YOLO enables automated quantification of anterior chamber depth and bilateral iridocorneal angles for post-ICL follow-up assessment, providing preliminary technical validation supporting further external and device-level evaluation. Full article

Background/Objectives: Myocardial bridging is a common anatomic variant in which an epicardial coronary artery takes an intramyocardial course. A true intracameral, or intracavitary, coronary course is rare. On coronary CT angiography (CTA), multiplanar and curved planar reformations answer most of these questions, but some cases stay equivocal because of partial-volume effects, cardiac motion, and loss of depth cues. A vessel next to a thin or fat-infiltrated wall can also mimic an intracameral course. Cinematic rendering (CR) is a photorealistic three-dimensional post-processing method that uses Monte Carlo path tracing with global illumination to reproduce natural depth and soft-tissue shading. Methods: In this retrospective, single-center, four-patient case series, we describe patients in whom CR was used alongside standard two-dimensional and reformatted CTA after the planar reconstructions had been read as equivocal. The cases were purposively selected as illustrative examples rather than consecutively enrolled, and the report is intended to be hypothesis-generating. Results: In two patients with left anterior descending (LAD) myocardial bridging, CR showed the tunneled segment with depth and was useful for discussion with referring clinicians and for teaching. In two patients whose coronary segment looked intracameral on planar images, CR showed intact overlying myocardium, which favored an intramyocardial course over chamber entry. Conclusions: In these selected patients, CR did not add anatomic information that was unavailable on expert reformations. It appeared to improve perceived depth and reader confidence in these equivocal cases and was useful for communication and teaching; no quantitative image analysis or formal reader study was performed. Because this is a small, retrospective case series without a comparison group, these observations are illustrative and hypothesis-generating and cannot be extrapolated to coronary CTA in general; prospective comparative studies are needed to determine whether CR adds diagnostic value over standard reconstructions. Full article

Vaccine-associated anterior uveitis (VAAU) is an uncommon ocular inflammatory phenotype reported after several vaccine platforms. It describes anterior segment inflammation occurring after vaccination when infectious, autoimmune, idiopathic, medication-related, and other possible causes have been reasonably excluded. The current literature indicates that post-vaccination uveitis is rare relative to the scale of immunization, although anterior uveitis is frequently reported among post-vaccination ocular inflammatory events. Evidence remains limited by reliance on case reports, case series, retrospective cohorts, and passive surveillance data, which restricts precise incidence estimation and causal interpretation. Accordingly, the available evidence primarily supports a temporal association rather than a confirmed causal relationship. Proposed mechanisms include innate immune activation, molecular mimicry, adjuvant- or formulation-related immune stimulation, bystander activation, delayed-type hypersensitivity, and host susceptibility related to prior uveitis, autoimmune disease, immune dysregulation, or genetic predisposition. Clinically, VAAU may present with redness, pain, photophobia, blurred vision, anterior chamber cells and flare, keratic precipitates, posterior synechiae, elevated intraocular pressure, vitritis, or cystoid macular edema. Most cases described in the literature are mild to moderate and improve with topical corticosteroids and cycloplegic therapy, whereas recurrent, severe, or treatment-intensive courses have been reported mainly in predisposed individuals. Future work should emphasize active surveillance, standardized phenotype-specific reporting, harmonized case definitions, and mechanistic studies to better define risk, recurrence patterns, and causality. Careful interpretation of suspected cases can support accurate diagnosis, patient counseling, and vaccine-safety monitoring without undermining clinically indicated immunization. Full article

Objectives: To assess how differences in keratometric measurement principles affect intraocular lens (IOL) power calculation, we compared front-surface reflection-based (FSR) and anterior segment optical coherence tomography (AS-OCT)-derived keratometry (K) values. Methods: This retrospective study included 160 eyes of 160 Japanese patients who underwent cataract surgery with implantation of a CNA0T0 (Alcon) IOL between March 2023 and October 2025. FSR-based keratometry (OA-K, 2.5 mm averaged output ring) was obtained using the OA-2000 (Tomey), whereas AS-OCT-derived keratometry (CA-K, 2.5 mm single ring) and Fourier keratometry (CA-FK, 3.0 mm Fourier analysis zone) were obtained using CASIA2 (Tomey). Predicted refractions were calculated using Barrett Universal II (B-UII) and SRK/T formulas with each K value. Results: Mean K values were 44.14 ± 1.51 D (OA-K), 44.28 ± 1.51 D (CA-K), and 44.40 ± 1.55 D (CA-FK). With the B-UII, the mean absolute error (MAE) was lowest with OA-K (0.27 ± 0.24 D), followed by CA-K (0.28 ± 0.22 D) and CA-FK (0.31 ± 0.23 D). Corresponding MAEs with SRK/T were 0.30 ± 0.26 D, 0.31 ± 0.24 D, and 0.33 ± 0.28 D, respectively. Exploratory subgroup analyses suggested a tendency toward lower prediction accuracy in steep corneas. Differences among keratometric methods were smaller with SRK/T than with B-UII. Conclusions: AS-OCT-derived keratometry did not demonstrate superiority over conventional FSR-based keratometry for IOL power calculation. Further studies are warranted to determine whether AS-OCT-derived keratometry may provide clinical advantages under specific conditions. Full article