tbuckley/cabot-search huggingface dataset:
<i>CDH1</i> Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype
Authors: Giovanni Corso, Elena Marino, Cristina Zanzottera, Carla Oliveira, Loris Bernard, Debora Macis, Joana Figueiredo, Joana Pereira, Patrícia Carneiro, Giulia Massari, Massimo Barberis, Alessandra Margherita De Scalzi, Sergio Vincenzo Taormina, Elham Sajjadi, Claudia Sangalli, Sara Gandini, Oriana D’Ecclesiis, Cristina Maria Trovato, Anna Rotili, Filippo Pesapane, Luca Nicosia, Carlo La Vecchia, Viviana Galimberti, Elena Guerini-Rocco, Bernardo Bonanni, Paolo Veronesi
Journal: JAMA Network Open (2024)

Importance Pathogenic or likely pathogenic (P/LP) germline CDH1 variants are associated with risk for diffuse gastric cancer and lobular breast cancer (LBC) in the so-called hereditary diffuse gastric cancer (HDGC) syndrome. However, in some circumstances, LBC can be the first manifestation of this syndrome in the absence of diffuse gastric cancer manifestation. Objectives To evaluate the frequency of germline CDH1 variants in women with the hereditary LBC (HLBC) phenotype, somatic CDH1 gene inactivation in germline CDH1 variant carriers’ tumor samples, and the association of genetic profiles with clinical-pathological data and survival. Design, Setting, and Participants This single-center, longitudinal, prospective cohort study was conducted from January 1, 1997, to December 31, 2021, with follow-up until January 31, 2023. Women with LBC seen at the European Institute of Oncology were included. Testing for germline CDH1 , BRCA1 , and BRCA2 genes was performed. Somatic profiling was assessed for germline CDH1 carriers. Main Outcomes and Measures Accurate estimates of prevalence of germline CDH1 variants among patients with HLBC and the association of somatic sequence alteration with HLBC syndrome. The Kaplan-Meier method and a multivariable Cox proportional hazards regression model were applied for overall and disease-free survival analysis. Results Of 5429 cases of primary LBC, familial LBC phenotype accounted for 1867 (34.4%). A total of 394 women with LBC were tested, among whom 15 germline CDH1 variants in 15 unrelated families were identified. Among these variants, 6 (40.0%) were P/LP, with an overall frequency of 1.5% (6 of 394). Of the 6 probands with P/LP CDH1 LBC, 5 (83.3%) had a positive family history of BC and only 1 (16.7%) had sporadic juvenile early-onset LBC. No germline BRCA1 and BRCA2 variants were identified in CDH1 carriers. An inactivating CDH1 mechanism (second hit) was identified in 4 of 6 explored matched tumor samples (66.7%) in P/LP germline carriers. The P/LP CDH1 LBC variant carriers had a significantly lower age at diagnosis compared with the group carrying CDH1 variants of unknown significance or likely benign (42.5 [IQR, 38.3-43.0] vs 51.0 [IQR, 45.0-53.0] years; P = .03). Conclusions and Relevance In this cohort study, P/LP germline CDH1 variants were identified in individuals not fulfilling the classic clinical criteria for HDGC screening, suggesting that identification of these variants may provide a novel method to test women with LBC with early age at diagnosis and/or positive family history of BC.
Ischemic colitis stricture hiding a colonic neoplasia: a peculiar case report
Authors: I. V. Albergati, C. Simeth, F. Monica
Journal: Endoscopy (2024)

Abstract Text We collected radiological, endoscopic, pathological findings from a 72 years old male with vascular and thrombotic comorbidities, referred for abdominal pain in sub-obstruction without bleeding. Labs showed inflammation, no anaemia. Computed Tomography demonstrated a large bowel concentric stricture, without enhancement or enlarged lymphnodes. Colonoscopy showed ulcers and impassable stenosis in sigma (histology consistent with ischemic colitis). The patient underwent balloon dilatations and a substenosis in descending colon was found. Rectum-sigma resection with ileostomy was than performed. Histology demonstrated a moderately differentiated ulcerated adenocarcinoma of rectum-sigma with distal ischemic colitis (IIIB stage). The latest ileocolonoscopy showed an ileo-cecal stenosis and fragile ileal mucosa consistent with ischemia. [1] [2] [3] [4] [5] [6] [7] [8] [9] [10] [11] [12] [13] [14] [15]
Patient-tailored stepwise approach is optimal in rapidly progressing duodenal infiltrating disease
Authors: A. V. Dragan, A. M. Voiosu, R. B. Mateescu, T. Voiosu
Journal: Endoscopy (2024)

Abstract Text We attempted biliary stenting through ERCP in a 60-year-old male with jaundice due to pancreatic head adenocarcinoma, hepatic metastases, and peritoneal carcinomatosis. Due to papillary infiltration, bile duct cannulation failed so we converted to same-session EUS-BD through choledochoduodenostomy by using a 6 Fr cystotome and a 60x10 mm partially covered biliary metal stent. Initial outcome was favorable but after four weeks, duodenal obstructive symptoms appeared and endoscopic examination revealed an impassable DI-DII junction with biliary stent reflux. Due to large-volume ascites, we opted for an 80x24 mm enteral stent that alleviated symptoms and prevented alimentary impaction of the biliary stent. This case illustrates early dysfunction of EUS-guided entero-biliary anastomosis and potential use of standard stenting in the case of rapidly progressive infiltrating disease.
Correlation between white globe appearance and clinicopathologic factors in early gastric cancer
Authors: D. J. Jung, G. H. Kim, H. K. Jeon, D. C. Joo, M. W. Lee, B. E. Lee, G. A. Song
Journal: Endoscopy (2024)

Aims Magnifying endoscopy with narrow-band imaging (ME-NBI) enables a detailed visualization of microsurface (MS) and microvascular (MV) structures in the gastrointestinal tract. A white globe appearance (WGA) is a small whitish lesion with a globular shape identified during ME-NBI. This study aimed to determine the association between WGA and clinicopathologic factors in early gastric cancer (EGC).
Endoscopic Treatment of Zenker´s diverticula and cricopharyngeal bar with a novel super pulsed Thulium fiber laser
Authors: K.D. C. Pham
Journal: Endoscopy (2024)

Aims Electrosurgery is the standard for endoscopic interventions in Zenker's diverticula (ZD) and cricopharyngeal bar (CB). This case series explores the application of a Thulium fiber laser (TFL) as an alternative modality. This study assesses the feasibility and effectiveness of a 1920nm super pulsed TFL in treating ZD and CB.
Comparative Long-Term Outcomes of Surgical vs Endoscopic Management for Biliary Anastomotic Strictures After Orthotopic Liver Transplantation: A Retrospective Analysis of 141 Patients
Authors: M. Gendard, A. Herrero, L. Meunier, M. Meszaros, L. Caillo, S. Faure, J. Ursic Bedoya, G. P. Pageaux, A. Debourdeau
Journal: Endoscopy (2024)

Aims Biliary anastomotic strictures (BAS) after liver transplantation cause significant morbidity. Endoscopy is the first-line treatment, while surgical hepaticojejunostomy (HJS) is reserved as a second-line option. This study assessed long-term outcomes for hepatic prognosis and survival after BAS resolution, comparing both management
Investigating the Link: Racial and Ethnic Differences in Gastrointestinal Stromal Tumor Rates – Joint Point Regression Analysis
Authors: R. M. Ram mohan, M. Joy, S. G. Magam, D. Natt, S. R. Magam, L. Pannikodu, J. Desai, P. Mustacchia
Journal: Endoscopy (2024)

Aims Gastrointestinal stromal tumors (GISTs) occur along the GI tract, from the esophagus to the anus, and occasionally in the omentum, mesentery, and peritoneum. They represent 1-2% of primary GI cancers. Rates differ by ethnicity and race in the US, with higher prevalence among African Americans, Asian/Pacific Islanders, Whites, and American Indians. This study explores GIST incidence trends by location, ethnicity, and race in the US.
Feasibility &amp; outcome of sharp FB removal without protective devices or endotracheal intubation
Authors: P. Chintan, P. N. Desai, K. Mayank, M. Rajiv, S. Nandwani, P. Ritesh, N. Patel, M. Sethia, R. Kakadiya
Journal: Endoscopy (2024)

Aims To study the feasibility and outcome of endoscopic extraction of sharp foreign bodies in UGI tract without use of overtube/hood and without endotracheal intubation.
Jejunitis in short bowel disease due to necrotizing enterocolitis
Authors: C. Siljeström, C. Suarez-Ferrer, M. Tavecchia, L. E. Pariente, B. Pillado, A. Burgos García, M. D. Martin-Arranz
Journal: Endoscopy (2024)

Abstract Text We present the case of an 18-year-old woman operated in the neonatal period for necrotizing enterocolitis, with extensive ileocolic resection and subsequent anastomosis. In 2020, colonoscopy was performed due to abdominal pain and increased faecal calprotectin, identifying ulceration and inflammatory stenosis of the anastomosis, deciding to perform a new resection with end-to-end jejuno-colic reconstruction. Pathology report without specificity. Due to recurrence of symptoms after surgery and persistently elevated calprotectin with unaltered imaging tests, ruled out the use of NSAIDs, colonoscopy was repeated in 2023 (video). As seen in the video, a new ulceration of the anastomosis was found, as well as linear fibrin covered ulcers on proximal jejunal folds, with normal mucosa, suggestive of ischaemia pending pathology report.
Prevalence and endoscopic-histological correlation of premalignant gastric lesions in Uruguay
Authors: I. Moratorio, A. Canavesi, K. Mönkemüller, C. Olano
Journal: Endoscopy (2024)

Aims The aim were to 1) to establish the prevalence, and 2) perform endoscopic-histological correlation of premalignant gastric lesions using high-definition white light endoscopy (WLE); and 3) to determine the interobserver agreement for the endoscopic findings of chronic atrophic gastritis (CGA)) and intestinal metaplasia (IM) in the largest hospital in Uruguay.
Does endoscopic drainage of ruptured hydatid cysts in the bile ducts replace surgery?
Authors: S. Hmimass, M. Borahma, F. Z. Chabib, M. Kadiri, C. Berhili, I. Benelbarhdadi, N. Lagdali, F. Z. Ajana
Journal: Endoscopy (2024)

Aims Our study aimed to evaluate the efficacy of endoscopic treatment of ruptured liver hydatid cysts (LHC) in the bile ducts.
Title: Does the presence of a second endoscopist increase adenoma detection rate?
Authors: S. Zaouga, E. Slama, H. Sawsen, E. Hanen, B. H. Sonia, C. Imed
Journal: Endoscopy (2024)

Aims The adenoma detection rate (ADR) is currently considered a quality criterion for colonoscopy, enabling colorectal cancer screening. Several factors influence this rate, including the quality of the colonoscopy and the endoscopist's performance.
Local Recurrence in Early Gastric Cancer with Curative Resection achieved through Endoscopic Submucosal Dissection
Authors: M. Kang, J. J. Park, B. Jae Lee, M. K. Joo, S. H. Kim, W. S. Kim, J. Kim, C. Kwon, S. E. Lee, J. Kang, H. J. Chun, Y. J. Lim
Journal: Endoscopy (2024)

Aims We investigated the local recurrence rate and its risk factors among patients who underwent endoscopic submucosal dissection (ESD) for early gastric cancer (EGC) and were judged to have undergone curative resection.
Long-term results of the endoscopic resection of appendiceal lesions
Authors: L. Gutiérrez-Rios, R. Muñoz-González, A. Calm, J. C. Balboa, B. Oliveras, I. Iborra, M. Rosinach, N. Caballero, V. Moreno De Vega, H. Uchima
Journal: Endoscopy (2024)

Aims To determine the long-term efficacy and safety (minimum follow-up of 12 months) of endoscopic resection of appendiceal lesions.
Are single use endoscopes suitable for therapeutic endoscopy?
Authors: F. Baldaque-Silva, J. P. Pereira, V. Miroslav, W. Naining, M. Omae
Journal: Endoscopy (2024)

Abstract Text If single-use gastroscopes (SUG) can be used in diagnostic and therapeutic procedures, and if their environmental impact decreases, their role in clinical practice may increase. We present the use of SUGs in 2 advanced therapeutic procedures. A 56-year-old patient had a subepithelial lesion in the esophagus with inconclusive EUS and biopsies. The ESD was performed using a SUG, the pathology analysis revealed a leiomyoma. A 63-year-old patient with Barrett's esophagus had metaplasia and suspicious of rhabdomyoma on biopsies. Multiband EMR was performed using a SUG. The pathology was benign. There were no adverse events. SUG were effective in these 2 advanced endoscopic procedures. Due to their safety profile and technical performance, SUGs might be useful in different clinic and logistic contexts.
Association of head and neck cancer with esophageal squamous cell carcinoma
Authors: C. El Maimouni, H. Cordova, S. Feliz Ruiz, L. Moreira Ruiz, L. Rivero Sánchez, P. G. Delgado-Guillena, O. Sendino Garcia, B. González-Suárez, I. K. Araujo, A. Fernandez-Simon, S. Carballal Ramil, J. Llach, M. Pellisé, F. Balaguer, G. Fernandez-Esparrach
Journal: Endoscopy (2024)

Aims Esophageal cancer (EC) is the eighth most common cancer worldwide and it comprises two major subtypes: esophageal adenocarcinoma (EAC) and esophageal squamous cell carcinoma (ESCC). There are few studies on the relationship between ESCC and head and neck squamous cell carcinoma (HNSCC).
New TTS suture device. Are we at the beginning of a new era of endoscopic surgery?
Authors: P. Rosón, F. M. Fernandez, A. M. Angeles, A. París, V. Cristina, M. Alberto, L. Vazquez
Journal: Endoscopy (2024)

Abstract Text Endoscopic suturing is one of the areas that we need to improve more, so that third space techniques become increasingly advanced and at the same time safe, and it is one of the least developed areas.
Patency testing prior to Video Capsule Endoscopy: An Irish Experience
Authors: C. Costigan, F. O'Hara, A. M. O´sullivan, I. Osmerova, A. Carroll, E. Gibbons, C. Goulding, M. Hussey, G. Holleran, B. Hall, M. Buckley, D. McNamara
Journal: Endoscopy (2024)

Aims Capsule retention, a rare but significant complication of Video Capsule Endoscopy (VCE), occurs in 1-2% of patients [1] [2], depending on indication [3] [4].
Optimizing Nutrition in Pediatric Neuromuscular Disorders: The Role of Percutaneous Endoscopic Gastrostomy
Authors: G. Catassi, C. Marmo, A. Gasbarrini, F. Tosi, V. Giorgio, M. E. Riccioni
Journal: Endoscopy (2024)

Aims Enteral nutrition (EN) has emerged as a pivotal intervention in managing the nutritional needs of pediatric patients with neuromuscular and neurological diseases. These conditions often lead to significant challenges in oral intake, necessitating an effective and safe alternative to ensure adequate nutrition. When long-term nutrition is required, current medical guidelines recommend the use of a gastrostomy or enterostomy tube to maintain nutritional support. The primary aim of our study is to assess the effect of PEG on the nutritional status of pediatric patients with rare neuromuscular and neurological disorders, while the secondary objective is to evaluate the incidence and severity of related complications.
Impact of a social network workgroup to improve gastroenterologists’ skills in characterizing colorectal neoplasia: a prospective study
Authors: P. Lafeuille, J. Rivory, L. Héroin, G. Olivier, S. Couraud, T. Wallenhorst, J. Albouys, R. Legros, S. Chaussade, T. Ponchon, F. Subtil, J. Jacques, M. Pioche
Journal: Endoscopy (2024)

Aims Accurate endoscopic characterization of colorectal lesions is essential for predicting histology but remains difficult. We studied the impact of a social network workgroup on the level of characterization of colorectal lesions by gastroenterologists.
Performance and adverse events of the motorized power spiral enteroscopy (PSE) in a case series at Eastern Europe: a single tertiary center experience
Authors: I. Lyutakov, H. Valkov, P. Peneva, M. Penchev, B. Vladimirov, P. Penchev
Journal: Endoscopy (2024)

Aims Motorized power spiral enteroscopy (PSE) was introduced as a promising new technique, that offers easier, faster, and more complete small bowel deep enteroscopy. There were reports of small bowel perforations and death, during PSE and withdrawal from the market of the device, due to these adverse events. The aim of our study was to evaluate the performance, efficacy, and safety and to report the adverse events, found during PSE in our clinical practice at a single tertiary endoscopy center in Eastern Europe.
The Effectiveness of YouTube as a Resource for IBS Patients: Awareness and Treatment Insights
Authors: R. M. Ram Mohan, S. G. Magam, M. Joy, D. Natt, S. R. Magam, L. Pannikodu, J. Desai, P. Mustacchia
Journal: Endoscopy (2024)

Aims This research delves into the impact of YouTube videos from academic and private sources on understanding Irritable bowel syndrome (IBS). While academic platforms usually offer evidence-based and scientifically verified information, private sources may lack rigorous quality controls and could be more anecdotal or commercial. Due to YouTube's widespread influence and absence of formal editorial review, there's a risk of misinformation proliferating. These content quality and credibility inconsistencies can significantly affect patient education and treatment outcomes for Irritable Bowel Syndrome.
Kaplan-Meier Insight: Understanding Readmission Patterns in Obesity and GIST Patients
Authors: R. M. Ram mohan, M. Joy, D. Natt, S. G. Magam, S. R. Magam, L. Pannikodu, J. Desai, P. Mustacchia
Journal: Endoscopy (2024)

Aims Gastrointestinal stromal tumors (GISTs) are the most common type of mesenchymal tumors in the gastrointestinal tract, resulting from mutations and overexpression of tyrosine kinase receptors in the interstitial cells of Cajal. In the US, GIST incidence is about 5000 per million, with a median diagnosis age of 66-69. Imatinib transformed GIST treatment, complementing surgical resection, but disease progression is seen even after 2-3 years of therapy. This study examines how obesity affects the readmission rate in GIST patients, providing valuable insight for future therapeutic strategies.
Comparative study on clinical changes in patients taking bowel cleansers(Oral Sulfate Tablets vs Low PEG vs Very low PEG)
Authors: Y. Ra, E. Kim, H. Chun, Y. Jean
Journal: Endoscopy (2024)

Aims Ever since Oral Sulfate Tablets were developed and approved as a bowel cleanser in Korea in 2019, they are being more frequently used. However, comparative studies of Oral Sulfate Tablets against existing bowel cleansing agents are focusing on the degree of bowel cleansing and quality management indicators of colonoscopy. Accordingly, we conducted a retrospective comparative study on the blood test results obtained from patients when using oral sulfate tablets compared to previously existing bowel cleansing agents.
Review of endoscopic procedure, findings and diagnosis related to esophageal food bolus impaction in a terciary hospital: a retrospective study
Authors: F. J. Sánchez Roncero, C. Bógalo Romero, C. Espuche Jiménez, A. Gómez Gómez, L. Madrigal Bayonas, J. Egea Valenzuela, F. Alberca De Las Parras
Journal: Endoscopy (2024)

Aims Food bolus impaction (FIB) is a common emergency in gastroenterology, requiring in many cases of endoscopic retrieval. It is associated with chronic conditions such as eosinophilic esophagitis (EoE), Schatzki's ring (SR) or peptic strictures, with a higher risk of recurrence. The aim of this study is to analyze the endoscopic findings during urgent endoscopy due to FIB and the cause underlying those episodes.
Successful concomitant Esophageal PerOral Endoscopic Myotomy(E-POEM) for Hyper-contractile Esophagus and Gastric PerOral Endoscopic Myotomy(G-POEM) for refractory gastroparesis with significant short term efficacy
Authors: A. Gandhi, H. Jain, A. Kabade, S. Murke, D. Lahire, B. Chavan, H. Gadhikar, A. Bapaye
Journal: Endoscopy (2024)

Abstract Text 70-y-M, symptomatic 4-mo– nausea,vomiting,reflux,chest discomfort a/w meals, bloating;EGD(fasting>14h)–mildly dilated&tortuous esophagus,normal LES,significant gastric food stasis;CECT-no obstruction;Gastric emptying study(GES)–24% retention @4h,t1/2 129min;GCSI-31;HbA1C,TSH normal; No Opioid abuse/ surgery/ viral illness; PPI/prokinetics trial for 3-mo–persistent symptoms.Esophageal HRM–DCI-17,000mmHg.cm.s (high);Contrast swallow–corkscrewing;Sildenafil trial–worsened reflux.Co-occurrence & overlapping symptoms-hypercontractile esophagus with refractory gastroparesis -therapeutic challenge.Procedure:supine,CO2,GA;Concomitant G-POEM followed by E-POEM performed–G-POEM 80min,E-POEM 110min,no major AE; Oral diet -day2, discharge-day3; F/u@1-mo GCSI 2;EGD – no stasis;GES@3-mo–10% retention@4h,t1/2 89min. Asymptomatic at 3-mo.
Disorders with esophagogastric junction outflow obstruction: clinical, paraclinical, and outcome characteristics
Authors: M. Oumaima, A. Labidi, L. Zouiten, S. Laabidi, N. Ben Mustapha, S. Meriem, M. Fekih, J. Boubaker
Journal: Endoscopy (2024)

Aims The aims of this study were to describe the clinical, paraclinical, and outcome features of disorders with esophagogastric junction (EGJ) outflow obstruction (encompassing achalasia and EGJ outflow obstruction) and to identify predictive factors for response to different therapeutic modalities.
Collagenous gastritis: an underdiagnosed cause of abdominal pain
Authors: C. Espuche Jiménez, L. Sánchez Godoy, C. Bógalo Romero, F. J. Sánchez Roncero, J. Egea Valenzuela, M. Muñoz Tornero, F. Alberca De Las Parras
Journal: Endoscopy (2024)

Abstract Text Collagenous gastritis is a rare disease with nonspecifc presentation, often misdiagnosed. The clinical characteristics, endoscopic, and histopathologic features, and treatment outcomes have not been well defined.
Polypoid ganglioneuroma in the colon, a rare endoscopic entity
Authors: F. M. Salinas Nuñez, M. Sierra Morales, J. I. Busteros Moraza, L. Gonzales Sanchez Ocaña, C. Trueba Collado, R. Benabdallah, A. Castellano Lopez, S. Tabernero Da Veiga, A. Santos Rodríguez, P. García Centeno
Journal: Endoscopy (2024)

Abstract Text Ganglioneuromas are rare, benign tumors of the sympathetic nervous system composed of cells from the neural crest. Except for the polypoid subtype, they may be associated with genetic syndromes. We present a case of polypoid colon ganglioneuroma, detected during a colonoscopy to study anemia in a 68-year-old patient with no relevant history. During the examination, 4 adenomatous polyps and a 5 mm sessile polyp that appeared to be adenomatous were removed. However, histological analysis of this lesion revealed poorly delimited proliferation of ganglion and Schwann cells. Immunohistochemistry confirmed neural differentiation. Solitary ganglioneuromas are not associated with systemic or genetic conditions; They can be safely removed using endoscopic procedures, as they rarely have complications or recurrence. [1] [2] [3] [4] [5]
Trans-Gallbladder Biliary Rendez-Vous Procedure to Convert a Cholecystoduodenostomy to Transpapillary Drainage in Distal Malignant Biliary Obstruction
Authors: E. Troncone, A. Moscardelli, P. Santangelo, R. Amendola, C. Petruzziello, E. De Cristofaro, P. De Vico, B. Neri, G. Monteleone, G. Del Vecchio Blanco
Journal: Endoscopy (2024)

Abstract Text Endoscopic ultrasound (EUS)-guided gallbladder drainage (GBD) is an effective rescue biliary drainage technique in distal malignant biliary obstruction after failed ERCP. However, the best strategy to deal with stent disfunction is still unknown. We reported a case of a 64 years-old female with pancreatic head cancer and previous EUS-GBD with a lumen-apposing metal stent (LAMS) who presented with cholangitis secondary to stent obstruction. After endoscopic stent cleansing, direct cholecystoscopy was performed through the LAMS. Internal cystic duct orifice was visualized and cannulated, and a guidewire was advanced into the duodenum across the biliary stricture and the papilla. After endoscope exchange, biliary cannulation with a duodenoscope and parallel rendez-vous technique was performed, and a self-expanding metal stent (SEMS) was placed for long-term transpapillary drainage.