Sandra Pérez Prado, Alberto Fernández Atutxa, María López López, Aitor Orive Calzada
{"title":"Treatment of functioning insulinoma using endoscopic ultrasound-guided radiofrequency ablation.","authors":"Sandra Pérez Prado, Alberto Fernández Atutxa, María López López, Aitor Orive Calzada","doi":"10.17235/reed.2025.10962/2024","DOIUrl":"https://doi.org/10.17235/reed.2025.10962/2024","url":null,"abstract":"<p><p>85-year-old patient who underwent endoscopic ultrasound (EUS)-guided radiofrequency ablation for a functioning pancreatic insulinoma and was previously treated with acenocoumarol due to a high thrombotic risk. Acenocoumarol was discontinued three days prior to the procedure and replaced with enoxaparin at 40 mg daily, with the basal anticoagulant therapy being restarted 24 hours after the procedure. Ten days later, the patient was diagnosed with an acute hematoma in the tail of the pancreas and gastric body, which led to clinical signs of hypotension and acute anemia, requiring the discontinuation of anticoagulation once again. Therefore, we believe that caution should be taken when managing anticoagulant therapy in patients undergoing endoscopic ultrasound (EUS)-guided radiofrequency ablation.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143391671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pablo Alonso-Castellano, Zoe Mariño, Antonio Tugores, Antonio Olveira, Javier Ampuero, Marina Berenguer, José Ramón Fernández-Ramos, Jose María Moreno-Planas, María Lázaro-Ríos, Helena Masnou, María Luisa González-Diéguez, José María Pinazo-Bandera, Esther Molina-Pérez, Manuel Hernández-Guerra, Marta Romero-Gutiérrez, Paula Fernández-Álvarez, Carolina Muñoz, Sara Lorente, Alba Cachero, Manuel Delgado-Blanco, Víctor Vargas, Judith Gómez-Camarero, Francisca Cuenca, Luis Ibáñez-Samaniego, Miguel Fernández-Bermejo, Beatriz Álvarez-Suárez, Paula Iruzubieta, Ana Arencibia-Almeida, Luis García-Villarreal
{"title":"Genetic map of Wilson disease in Spain - A great tool to improve diagnosis and screening.","authors":"Pablo Alonso-Castellano, Zoe Mariño, Antonio Tugores, Antonio Olveira, Javier Ampuero, Marina Berenguer, José Ramón Fernández-Ramos, Jose María Moreno-Planas, María Lázaro-Ríos, Helena Masnou, María Luisa González-Diéguez, José María Pinazo-Bandera, Esther Molina-Pérez, Manuel Hernández-Guerra, Marta Romero-Gutiérrez, Paula Fernández-Álvarez, Carolina Muñoz, Sara Lorente, Alba Cachero, Manuel Delgado-Blanco, Víctor Vargas, Judith Gómez-Camarero, Francisca Cuenca, Luis Ibáñez-Samaniego, Miguel Fernández-Bermejo, Beatriz Álvarez-Suárez, Paula Iruzubieta, Ana Arencibia-Almeida, Luis García-Villarreal","doi":"10.17235/reed.2025.11005/2024","DOIUrl":"https://doi.org/10.17235/reed.2025.11005/2024","url":null,"abstract":"<p><strong>Background: </strong>A National Registry for Wilson disease (WD) was recently started by the Spanish Association for Study of the Liver (AEEH). We evaluated the genetic data of the patients and the differences between regions and hospitals.</p><p><strong>Method: </strong>Multicentric observational study from the WD Registry after the first year.</p><p><strong>Results: </strong>Patients from 30 hospitals, in 13/17 Spanish regions (covering 80% of population) were included. Genetic data were available for 260/320 patients. More than 130 mutations in the ATP7B gene were registered, the majority in less than 4 alleles, being most prevalent p.Met645Arg (20% alleles, mainland and the Canary Islands), p.Leu708Pro (16.5%, Canary Islands) and p.His1069Gln (8.3%, mainland). Only 15 mutations occurred in homozygosis, 3 in more than 5 patients: p.Leu708Pro (24 patients), p.Met645Arg and p.His1069Gln (6 patients each). Genetic data availability ranged from 0-100% among regions; similarly, the difference among hospitals within a region was larger than 50%. Without a genetic test up to 45% of patients would not have reached Leipzig score >3. In screening cases, genetics was used in 45/58 (78%); without genetics, two thirds of them would not have reached a Leipzig score >3 (33/49).</p><p><strong>Conclusion: </strong>Here we present the first genetic map of WD in Spain. The use of genetic test was highly heterogeneous, being higher in screening cases. Although a large variability of mutations was found, regional characteristics indicated that screening for a limited number of exons (6, 8, 10, 14 or 17) would detect more than 50% of alleles in a given region, thus enabling the design of better diagnosis/screening tailored strategies.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143391668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ana Lancho Muñoz, José María López Tobaruela, Paula Iglesias Conejero, Eduardo Redondo Cerezo
{"title":"Successful management of eosinophilic esophagitis with mometasone: an unusual therapeutic approach.","authors":"Ana Lancho Muñoz, José María López Tobaruela, Paula Iglesias Conejero, Eduardo Redondo Cerezo","doi":"10.17235/reed.2025.11106/2025","DOIUrl":"https://doi.org/10.17235/reed.2025.11106/2025","url":null,"abstract":"<p><p>Eosinophilic esophagitis is a chronic, immune-mediated esophageal condition characterized by eosinophilic infiltration of the esophageal mucosa. This report discusses the case of a patient with EoE who showed significant clinical and histological improvement following treatment with mometasone, a corticosteroid rare used for this disease. Mometasone has shown promise due to its enhanced mucosal absorption and potent anti-inflammatory properties. In this case, the patient exhibited resolution of symptoms and marked reduction in endoscopic and histological involvement, suggesting that mometasone could serve as a viable alternative therapy in specific clinical scenarios.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143391670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marta Nabal Mirat, Ignacio Cavaller Murillo, Pablo Vázquez Beltrán, Alfredo Vivas López, Javier Martínez Caballero, Elena Gómez-Domínguez
{"title":"Gastric volvulus, a surgical or endoscopic emergency?","authors":"Marta Nabal Mirat, Ignacio Cavaller Murillo, Pablo Vázquez Beltrán, Alfredo Vivas López, Javier Martínez Caballero, Elena Gómez-Domínguez","doi":"10.17235/reed.2025.10993/2024","DOIUrl":"https://doi.org/10.17235/reed.2025.10993/2024","url":null,"abstract":"<p><p>We present the case of a 62 year old male who presented to the emergency room with abdominal pain and vomiting in coffee grounds. In the diagnostic study, a gastric volvulus was detected and initial endoscopic management was decided. He presented a torpid clinical evolution, which eventually required surgical intervention as the final treatment. We highlight gastric volvulus as a rare urgent pathology, whose optimal management is still to be defined.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143391667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rita Carrilho Pichel, Hugo Miguel Miranda, Diogo Carvalho Sá, João Queirós Coelho, Pedro Lemos Lopes, Maria João Ramos, José Ramón Viscaíno, António Araújo
{"title":"Histologic findings of liver injury during pembrolizumab-axitinib treatment.","authors":"Rita Carrilho Pichel, Hugo Miguel Miranda, Diogo Carvalho Sá, João Queirós Coelho, Pedro Lemos Lopes, Maria João Ramos, José Ramón Viscaíno, António Araújo","doi":"10.17235/reed.2025.11064/2025","DOIUrl":"https://doi.org/10.17235/reed.2025.11064/2025","url":null,"abstract":"<p><p>Hepatotoxicity is a significant concern in systemic cancer treatments. The pembrolizumab-axitinib combination, used in advanced renal cell carcinoma (RCC), is associated with a 22% incidence of ≥G3 liver enzyme elevations. In this case report we provide the first description of liver biopsy findings of axitinib or pembrolizumab-axitinib drug-induced liver injury (DILI). These findings may enhance understanding of the hepatotoxic effects of this combination and inform strategies for patient management.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143391669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Appendiceal orifice submucosal tumor: neuromuscular and vascular hamartoma.","authors":"Huahui Zhang, Chuchu Yang, Shouying Li, Zhimei Zhang","doi":"10.17235/reed.2025.11055/2025","DOIUrl":"https://doi.org/10.17235/reed.2025.11055/2025","url":null,"abstract":"<p><p>A 61-year-old man was admitted to the gastroenterology department with a history of abdominal discomfort. He denied any past illness and family history of malignant tumors. Laboratory, electrocardiogram, and physical examination showed no obvious abnormality. Later, the patient underwent the colonoscopy, and a 1.0*1.0 cm submucosal tumor (SMT) was presented at the appendiceal orifice. Endoscopic ultrasound showed that the SMT was a well-distributed hyperechoic lesion. Endoscopic submucosal dissection (ESD) was performed, and the SMT was resected in a whole piece. Post-ESD histopathological examination showed a well-differentiated mass, which comprised bundles of nerve fibers, fascicles of smooth muscle, and vascular channels. Further immunohistochemistry revealed mass cells that stained positive for S-100, CD34, and SMA. Histopathological examination and immunohistochemistry demonstrated a neuromuscular and vascular hamartoma (NMVH).</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Juan Sebastián Peinado-Acevedo, Carlos Martínez-Montalvo, Óscar Fernando-Ruiz, Martín Alonso Gómez-Zuleta
{"title":"Chronic diarrhea unveiled by colonoscopy.","authors":"Juan Sebastián Peinado-Acevedo, Carlos Martínez-Montalvo, Óscar Fernando-Ruiz, Martín Alonso Gómez-Zuleta","doi":"10.17235/reed.2025.11074/2025","DOIUrl":"https://doi.org/10.17235/reed.2025.11074/2025","url":null,"abstract":"<p><p>A 62-year-old woman from Bogotá, Colombia, had chronic diarrhea for 4 years. The diarrhea was lienteric, occurring day and night, with mucus but no blood. She had no significant weight loss, abdominal pain, or other systemic symptoms, and no notable medical history. Initial stool tests showed leukocytes and blood but no parasites. Routine lab tests were normal. Due to the chronic symptoms and nocturnal diarrhea, a colonoscopy was performed. It revealed numerous mobile, white worms in the right colon, identified as Trichuris trichiura, causing friable mucosa. She was diagnosed with trichuriasis, or human whipworm infection.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Giant liver abscess as a manifestation of sexually transmitted disease.","authors":"Tania Carvalho, Rita Costa, Manuela Certo, Dália Fernandes","doi":"10.17235/reed.2025.11066/2025","DOIUrl":"https://doi.org/10.17235/reed.2025.11066/2025","url":null,"abstract":"<p><p>European male in his mid-30s with risky homosexual sexual behavior, without a history of recent travels, presented to the emergency department with a two-week history of right upper abdominal and fever. He had severe anemia (hemoglobin 7.9g/dl), and elevated C-reactive protein (150 mg/L). Abdominal imaging showed two cystic lesions measuring 11 and 4 cm in the right hepatic lobe with a regular outline, with septa.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A blind hole under endoscopy.","authors":"Tingting Cao, Honggang Wang","doi":"10.17235/reed.2025.11053/2025","DOIUrl":"https://doi.org/10.17235/reed.2025.11053/2025","url":null,"abstract":"<p><p>A 58-year-old female patient presented to the hospital for a digestive endoscopy due to mild dysphagia. Gastroscopic examination revealed a significant circular defect in the midline of the palate.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Maite Serrano Dueñas, Francisco Domper Bardají, Eva de la Santa Belda, Ana María Sobrino López, Fernando Ramírez Esteso, María Rodríguez González
{"title":"Analysis of quality criteria in endoscopic retrograde cholangiopancreatography in a tertiary care center.","authors":"Maite Serrano Dueñas, Francisco Domper Bardají, Eva de la Santa Belda, Ana María Sobrino López, Fernando Ramírez Esteso, María Rodríguez González","doi":"10.17235/reed.2025.11056/2025","DOIUrl":"https://doi.org/10.17235/reed.2025.11056/2025","url":null,"abstract":"<p><p>There is a growing concern about ensuring quality in patient care, particularly in high-risk procedures such as Endoscopic Retrograde Cholangiopancreatography (ERCP). We present the results of the evaluation of our performance in ERCP based on the quality measures proposed by the European Society of Gastrointestinal Endoscopy (ESGE) in 2018. This study aims to serve as an internal audit and the first of its kind in our center.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}