Search Results (210)

Background: Congenital diarrhea is persistent diarrhea that manifests during the neonatal period. Mutations in DGAT1, which is crucial for triglyceride synthesis and lipid absorption in the small intestine, are causal factors for congenital diarrhea. In this study, we aimed to determine the value of tissue RNA sequencing (RNA-seq) for assisting with the clinical diagnosis of some genetic variants of uncertain significance. Methods: We clinically evaluated a patient with watery diarrhea, vomiting, severe malnutrition, and total parenteral nutrition dependence. Possible pathogenic variants were detected using whole-exome sequencing (WES). RNA-seq was utilized to explore the transcriptional alterations in DGAT1 variants identified by WES with unknown clinical significance, according to the American College of Medical Genetics guidelines. Systemic examinations, including endoscopic and histopathological examinations of the intestinal mucosa, were conducted to rule out other potential diagnoses. Results: We successfully diagnosed a patient with congenital diarrhea and protein-losing enteropathy caused by a DGAT1 mutation and reviewed the literature of 19 cases of children with DGAT defects. The missense mutation c.620A>G, p.Lys207Arg located in exon 15, and the intronic mutation c.1249-6T>G in DGAT1 were identified by WES. RNA-seq revealed two aberrant splicing events in the DGAT1 gene of the patient’s small intestinal tissue. Both variants lead to loss-of-function consequences and are classified as pathogenic variants of congenital diarrhea. Conclusions: Rare DGAT1 variants were identified as pathogenic evidence of congenital diarrhea, and the detection of tissue-specific mRNA splicing and transcriptional effects can provide auxiliary evidence. Full article

Background/Objectives: Septoplasty is a commonly performed surgical procedure aimed at correcting nasal septal deviations, to improve nasal airflow and respiratory function. Traditional approaches to septal correction rely on either direct visualization or endoscopic guidance. Recently, a novel technology known as exoscopy has been introduced into surgical practice. Exoscopy is an “advanced magnification system” that provides an enlarged, three-dimensional view of the operating field. In this article, we present our experience with exoscope-assisted septoplasty, developed over the last two years, and compare it with our extensive experience using the endoscopic approach. Methods: Our case series includes 26 patients, predominantly males and young adults, who underwent exoscope-assisted septoplasty. We discuss the primary advantages of this technique and, most importantly, provide an analysis of its learning curve. The cohort of patients treated using the exoscopic approach was compared with a control group of 26 patients who underwent endoscope-guided septoplasty, randomly selected from our broader clinical database. Finally, we present a representative surgical case that details all phases of the exoscope-assisted procedure. Results: Our surgical experience has demonstrated that exoscopy is a safe and effective tool for performing septoplasty. Moreover, the learning curve associated with this technique exhibits a rapid and progressive improvement. Notably, exoscopy provides a substantial educational benefit for trainees and medical students, as it enables them to share the same visual perspective as the lead surgeon. Conclusions: Although further studies are required to validate this approach, we believe that exoscopy represents a promising advancement for a wide range of head and neck procedures, and certainly for septoplasty. Full article

Background/Objectives: Benign choledochojejunal anastomotic stricture (CJS) is a major late adverse event (AE) after choledochojejunostomy. An endoscopic method using balloon-assisted enteroscopy endoscopic retrograde cholangiopancreatography (BAE-ERCP) was recently developed for CJS. Methods: We retrospectively reviewed 45 patients (98 cases) who underwent BAE-ERCP for benign CJS. The primary endpoint was the success rate of ERCP. The secondary endpoints were AEs and the recurrence rate of benign CJS. Results: ERCP was successful in 36 patients (80%). Balloon dilation of the anastomosis was performed in all 36 patients in whom ERCP was successful, and temporary plastic stent (PS) placement was performed in 20 of these patients (55.6%). Three cases of PS migration and one case of portal vein thrombosis occurred as mild AEs. However, one case of intestinal perforation required emergency surgery for repair. In univariate analysis, proficiency in ERCP procedures (p = 0.019) and surgery at our hospital (p = 0.010) emerged as major factors affecting the procedural success. In univariate analysis, only the early onset of CJS within 400 days after choledochojejunostomy was extracted as a significant factor for the early recurrence of CJS after ERCP (p = 0.036). Conclusions: To ensure successful BAE-ERCP for CJS, it is essential to have proficiency in the ERCP and collect as much detailed information about prior surgery as possible before the procedure. Additionally, the risk of CJS recurrence might be high in patients in whom CJS develops early after surgery. Full article

Introduction: Artificial intelligence (AI) is increasingly being applied to improve the diagnosis and management of inflammatory bowel disease (IBD). Aims and Methods: We conducted a narrative review of the literature on AI applications in IBD endoscopy, focusing on diagnosis, disease activity assessment, therapy prediction, and detection of dysplasia. Results: AI systems have demonstrated high accuracy in assessing endoscopic and histological disease activity in ulcerative colitis and Crohn’s disease, with performance comparable to expert clinicians. Machine learning models can predict response to biologics and risk of complications. AI-assisted technologies like confocal laser endomicroscopy enable real-time histological assessment. Computer-aided detection systems improve identification of dysplastic lesions during surveillance. Challenges remain, including need for larger datasets, external validation, and addressing potential biases. Conclusions: AI has significant potential to enhance IBD care by providing rapid, objective assessments of disease activity, predicting outcomes, and assisting in dysplasia surveillance. However, further validation in diverse populations and prospective studies are needed before widespread clinical implementation. With ongoing advances, AI is poised to become a valuable tool to support clinical decision-making and improve patient outcomes in IBD. Addressing methodological, regulatory, and cost barriers will be crucial for the successful integration of AI into routine IBD management. Full article

Background/Objectives: The aim of this case series is to evaluate the outcomes and safety of video-assisted mastectomy, illustrating the harmonious collaboration of oncologic and plastic surgery. This novel minimally invasive technique allows immediate prosthetic reconstruction and represents a cost-effective alternative to robotic breast surgery. Methods: Video-assisted, single-port nipple-sparing mastectomies were performed in patients with small to medium-sized breasts, followed by immediate direct-to-implant reconstruction with either prepectoral or dual plane implant placement. The patients’ electronic medical records were analyzed, including demographic characteristics, operative times and histopathology reports. Results: A total of 18 patients underwent successful video-assisted mastectomy, without conversion to traditional open procedure. Fifteen of the operations were risk-reducing mastectomies. Twelve patients had complementary procedures performed concurrently on the previously operated contralateral breast (delayed reconstruction/expander-to-implant exchange). Moreover, three patients benefited from additional minimally invasive techniques during the same surgery (prophylactic laparoscopic hysterectomy). Immediate breast reconstruction with polyurethane or microtextured breast implants up to 450 cc was performed, with satisfactory aesthetic outcomes and no cancer recurrences at 6 to 12 months postoperative follow-up. Early complications included transient hypercapnia, areolar congestion and cellulitis. No skin necrosis or implant-related complications were reported. The most frequently encountered late issues were contour irregularities. Conclusions: Video-assisted mastectomy facilitates the safe removal of proven pathologic or healthy breast tissue with minimal damage to the breast’s skin envelope, facilitating single-stage breast reconstruction. Full article

Obesity is a major global health challenge associated with significant metabolic and gastrointestinal comorbidities. While metabolic and bariatric surgery remains the gold standard for durable weight loss, the desire for additional options has fueled the development of endoscopic bariatric therapies (EBTs) as another tool for weight loss. This review examines established EBTs, including endoscopic sleeve gastroplasty (ESG), intragastric balloons (IGBs), and transoral outlet reduction (TORe), alongside emerging therapies such as duodenal mucosal resurfacing (DMR), incisionless anastomosis creation, and fully automated endoscopic gastric remodeling systems. ESG has demonstrated durable weight loss, favorable safety, and superior cost-effectiveness compared to pharmacotherapy alone, while combination strategies using EBTs and anti-obesity medications (AOMs), particularly GLP-1 receptor agonists, have resulted in greater total-body weight loss than either modality alone. Genetic variation, particularly within the leptin–melanocortin pathway, may predict response to endoscopic interventions and guide personalized treatment selection. Novel investigational procedures such as DMR, automated or robotic gastric remodeling, and magnetic or ultrasound-assisted gastric bypass show promising early results. Endoscopic therapies are poised to become increasingly central to the personalized, scalable management of obesity and related metabolic diseases. Full article

Real-time 3D reconstruction in minimally invasive surgery improves depth perception and supports intraoperative decision-making and navigation. However, endoscopic imaging presents significant challenges, such as specular reflections, low-texture surfaces, and tissue deformation. We present a novel, deterministic and iterative stereo-matching method based on adaptive support weights that is tailored to these constraints. The algorithm is implemented in CUDA and C++ to enable real-time performance. We evaluated our method on the Stereo Correspondence and Reconstruction of Endoscopic Data (SCARED) dataset and a custom synthetic dataset using the mean absolute error (MAE), root mean square error (RMSE), and frame rate as metrics. On SCARED datasets 8 and 9, our method achieves MAEs of 3.79 mm and 3.61 mm, achieving 24.9 FPS on a system with an AMD Ryzen 9 5950X and NVIDIA RTX 3090. To the best of our knowledge, these results are on par with or surpass existing deterministic stereo-matching approaches. On synthetic data, which eliminates real-world imaging errors, the method achieves an MAE of 140.06 μm and an RMSE of 251.9 μm, highlighting its performance ceiling under noise-free, idealized conditions. Our method focuses on single-shot 3D reconstruction as a basis for stereo frame stitching and full-scene modeling. It provides accurate, deterministic, real-time depth estimation under clinically relevant conditions and has the potential to be integrated into surgical navigation, robotic assistance, and augmented reality workflows. Full article

Endoscopic surgery is useful and helpful especially to access areas with limited visibility. The combination of this technique with innovative approaches could be the solution to improve quality of surgery and patients’ outcome. This study aimed to illustrate how Endoscopic-Assisted Transoral Approach (EATA) can be used to successfully remove specific extracranial tumors with defined characteristics. Eleven patients with extracranial tumors underwent surgical resection using an EATA between 2003 and 2025. All patients underwent clinical examination and fiberoptic laryngoscopy. Preoperative CT and/or MRI was performed in all cases. All patients were successfully treated utilizing an EATA. Histological examination revealed nine parapharyngiomas, comprising five pleomorphic adenomas, two schwannomas, one ectopic thyroid gland, one lipoma, one masticator space schwannoma, and one nasopharyngeal pleomorphic adenoma. No intra-operative nor peri-operatory complications were observed. The only long-term sequela observed was Horner’s syndrome in the two schwannomas originating from the parapharyngeal-carotid space. The mean hospital stay was 2.6 days, while the mean follow-up duration was 9.8 years. The EATA represents a valid surgical technique for the treatment of benign, encapsulated, and non-vascular parapharyngeal space (PPS) tumors exhibiting posterior displacement of major vessels. This approach may also prove beneficial for the management of other benign, encapsulated, and non-vascular tumors located in the nasopharynx and masticator space. Full article

Uterine fibroid is one of the most common benign uterine diseases, affecting up to 70–80% of females of reproductive age. Whilst abdominal myomectomy has traditionally been a major uterine-sparing surgical intervention for its management, this is not without considerable technical challenges and the potential for multiple complications and morbidity. Since the introduction of video-assisted endoscopic surgery by Dr. Camran Nezhat in the 1980s, the development of minimally invasive approaches to myomectomy has accelerated rapidly worldwide. Whilst this offers numerous benefits for patients, laparoscopic myomectomy still carries implications for necessary expertise in surgical skill, intraoperative hemorrhage control, concern for future reproductive potential and risk of occult uterine malignancy. In this review article, we present the latest data regarding such aspects and offer our opinions on widely raised questions and existing contentions regarding myomectomy. We believe that minimally invasive myomectomy is a safe, efficient and beneficial approach to management in the hands of surgeons empowered with advanced knowledge, experience, and refined surgical skills. Full article

Background and Aims: Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are rare but serious congenital anomalies requiring early surgical intervention. Over the past two decades, minimally invasive surgical (MIS) approaches—particularly thoracoscopic repair—have gained traction, aiming to reduce postoperative morbidity while maintaining surgical efficacy. Objective: This narrative review provides a comprehensive overview of the evolution and current status of MIS techniques for EA/TEF, assessing their clinical outcomes, technical challenges, and implications for patient care. Methods: A structured literature search was conducted to identify clinical studies, reviews, and reports on thoracoscopic, robotic-assisted, and endoscopic approaches to EA/TEF. Emerging adjuncts, including tissue engineering, botulinum toxin use, and magnet-assisted anastomosis, were also reviewed. Results: Thoracoscopic repair has demonstrated comparable anastomotic success rates to open surgery (approximately 85–95%) with significantly reduced rates of musculoskeletal complications, such as scoliosis and chest wall deformities (reported in less than 10% of cases, compared to up to 40% in open approaches). Robotic-assisted and endoscopic-assisted techniques have enabled improved visualization and precision in anatomically challenging cases, although their use remains limited to high-resource centers with specialized expertise. Common postoperative complications include anastomotic stricture (30–50%), gastroesophageal reflux disease (35–70%), and respiratory morbidity, necessitating long-term multidisciplinary follow-up. Recent innovations in simulation-based training and bioengineered adjuncts have facilitated safer MIS adoption in neonates. Conclusions: Minimally invasive techniques have improved the surgical management of EA/TEF, though challenges remain regarding technical complexity, training, and resource availability. Continued innovation and collaborative research are essential for advancing care and ensuring optimal outcomes for affected infants. Full article

Background and Objectives: Upper tract urothelial carcinoma (UTUC) is one of the most underdiagnosed but, at the same time, one of the most lethal cancers. In this review article, we investigated the application of artificial intelligence and novel technologies in the prompt identification of high-grade UTUC to prevent metastases and facilitate timely treatment. Materials and Methods: We conducted an extensive search of the literature from the Pubmed, Google scholar and Cochrane library databases for studies investigating the application of artificial intelligence for the diagnosis of UTUC, according to the PRISMA guidelines. After the exclusion of non-associated and non-English studies, we included 12 articles in our review. Results: Artificial intelligence systems have been shown to enhance post-radical nephroureterectomy urine cytology reporting, in order to facilitate the early diagnosis of bladder recurrence, as well as improve diagnostic accuracy in atypical cells, by being trained on annotated cytology images. In addition to this, by extracting textural radiomics features from data from computed tomography urograms, we can develop machine learning models to predict UTUC tumour grade and stage in small-size and especially high-grade tumours. Random forest models have been shown to have the best performance in predicting high-grade UTUC, while hydronephrosis is the most significant independent factor for high-grade tumours. ChatGPT, although not mature enough to provide information on diagnosis and treatment, can assist in improving patients’ understanding of the disease’s epidemiology and risk factors. Computer vision models, in real time, can augment visualisation during endoscopic ureteral tumour diagnosis and ablation. A deep learning workflow can also be applied in histopathological slides to predict UTUC protein-based subtypes. Conclusions: Artificial intelligence has been shown to greatly facilitate the timely diagnosis of high-grade UTUC by improving the diagnostic accuracy of urine cytology, CT Urograms and ureteroscopy visualisation. Deep learning systems can become a useful and easily accessible tool in physicians’ armamentarium to deal with diagnostic uncertainties in urothelial cancer. Full article

Background/Objectives: Lumbar spine surgery has undergone significant technological transformation in recent years, driven by the goals of minimizing invasiveness, improving precision, and enhancing clinical outcomes. Emerging tools—including robotics, augmented reality, computer-assisted navigation, and artificial intelligence—have complemented the evolution of minimally invasive surgical (MIS) approaches, such as endoscopic and lateral interbody fusions. Methods: This systematic review evaluates the literature from February 2020 to February 2025 on technological and procedural innovations in LSS. Eligible studies focused on degenerative lumbar pathologies, advanced surgical technologies, and reported clinical or perioperative outcomes. Randomized controlled trials, comparative studies, meta-analyses, and large case series were included. Results: A total of 32 studies met the inclusion criteria. Robotic-assisted surgery demonstrated high accuracy in pedicle screw placement (~92–94%) and reduced intraoperative blood loss and radiation exposure, although long-term clinical outcomes were comparable to conventional techniques. Intraoperative navigation improved instrumentation precision, while AR enhanced ergonomic workflow and reduced surgeon distraction. AI tools showed promise in surgical planning, guidance, and outcome prediction but lacked definitive evidence of clinical superiority. MIS techniques—including endoscopic discectomy and MIS-TLIF—offered reduced blood loss, shorter hospital stays, and faster recovery, with equivalent pain relief, fusion rates, and complication profiles compared to open procedures. Lateral and oblique approaches (XLIF/OLIF) further optimized alignment and indirect decompression, with favorable perioperative metrics. Conclusions: Recent innovations in lumbar spine surgery have enhanced technical precision and perioperative efficiency without compromising patient outcomes. While short-term benefits are clear, long-term clinical advantages and cost-effectiveness require further investigation. Integration of robotics, navigation, AI, and MIS into spine surgery reflects an ongoing shift toward personalized, data-driven, and less invasive care. Full article

Background: Minimally invasive coronary surgery (MICS) has emerged as an alternative approach in the surgical management of coronary artery disease (CAD), offering potential advantages such as reduced surgical trauma, shorter hospital stays, and faster recovery. While conventional coronary artery bypass grafting (CABG) remains the standard treatment for severe CAD, MICS has seen variable adoption due to concerns over procedural complexity, the risk of incomplete revascularization, and the increasing role of percutaneous interventional techniques. Objectives: This review examines recent clinical developments in MICS, analyzing its techniques, technological advancements, and the impact on patient outcomes, while also addressing its limitations. Methods: This narrative review incorporates studies from PubMed, tracing the evolution of coronary surgery, the refinement of minimally invasive approaches, and the innovations that have enabled the selective implementation of MICS. This review evaluates robot-assisted coronary surgery and totally endoscopic coronary revascularization, discussing their clinical indications and comparative outcomes. Results: Advances in imaging, surgical instrumentation, and anesthesia have improved procedural safety and precision, yet MICS remains a selectively utilized technique rather than a universally preferred alternative. Comparative studies demonstrate mixed clinical outcomes, highlighting both the recovery benefits and technical challenges associated with MICS. Discussion: Patient selection, preoperative planning, and individualized surgical strategies play a crucial role in optimizing the effectiveness of MICS. Challenges include technical complexity, integration into broader clinical practice, and the need for procedural refinement. While ongoing research continues to address these hurdles, the role of MICS in CAD management remains context-dependent, influenced by case complexity and institutional expertise. Conclusion: MICS presents an evolving surgical approach with defined benefits and limitations, requiring careful patient selection and procedural optimization for the best outcomes. This review provides a comprehensive evaluation of recent advances in MICS while acknowledging its challenges and selective application in coronary surgery. Full article

Background/Objectives: The aim of the study was to evaluate the long-term outcomes of revisional powered endoscopic dacryocystorhinostomy (EnDCR) with the intraoperative application of Mitomycin C in patients after failed transcanalicular laser-assisted dacryocystorhinostomy (LDCR) or external dacryocystorhinostomy (ExDCR). Methods: This prospective, non-randomized, comparative, single-center clinical study was conducted between 2020 and 2023. The study included all patients presenting with epiphora graded ≥3 on the Munk scale (0–4) and confirmed ostium occlusion or significant narrowing on endoscopic examination following primary LDCR or ExDCR. All the participants underwent pre- and postoperative assessment using the Munk scale and fluorescein dye disappearance test (FDDT). The primary endpoints were ostium patency on irrigation and change in epiphora grade at 24-month follow-up. Secondary endpoints included changes in the FDDT results, endoscopic assessment of ostium patency, and ostium size. Outcomes were compared between the LDCR and ExDCR groups. Results: A total of 24 patients (mean age: 62 ± 19 years; range: 27–93 years) were included, with 12 cases after failed LDCR and 12 cases after failed ExDCR. The follow-up period ranged from 24 to 58 months. Significant improvement in epiphora was observed at the 24-month follow-up, both in the Munk scale (p < 0.001) and FDDT (p < 0.001). The overall anatomical and functional success rate was 95.8% (23/24). The mean time to recurrence was 63 weeks after ExDCR and 38 weeks after LDCR. Although there was a trend toward a longer symptom-free interval following ExDCR, the difference was not statistically significant (p = 0.231). Conclusions: Powered endoscopic DCR with intraoperative Mitomycin C application is an effective reoperative approach for managing recurrent lacrimal drainage obstruction following failed laser or external dacryocystorhinostomy. Full article

Gastroesophageal reflux disease (GERD) is a prevalent disorder caused by lower esophageal sphincter (LES) dysfunction, often requiring long-term treatment. This study assessed the feasibility of endoscopic balloon-assisted laser treatment (EBLT) using a porcine GERD model. One week after GERD induction, EBLT was performed on three animals, while one served as a control. A 980 nm continuous-wave laser was delivered at 30 W for 90 s (energy = 2700 J and power density = 2.17 W/cm²) in a circumferential, non-contact manner using a balloon-assisted catheter. Real-time mucosal temperature monitoring was achieved using a fiber Bragg grating (FBG) sensor integrated with the balloon, maintaining temperatures below 40 °C. Endoscopic ultrasound and manometry were used to evaluate LES thickness and pressure before and after treatment. After a 12-week observation period, esophageal tissues were harvested for histological and gene expression analysis. Compared to the control, the treated group showed an increase in LES thickness (3.6 ± 0.2 mm vs. 1.5 mm) and relative LES pressure changes (2.9 ± 1.6 vs. 0.6). Upregulation of fibrosis- and hypertrophy-related genes suggested structural remodeling of the LES. No adverse effects or mucosal injury were observed. These findings support EBLT as a promising and minimally invasive strategy for GERD treatment. Full article