Revista Espanola De Enfermedades Digestivas最新文献

{"title":"Ciliopathy due to genetic alterations of TULP3 as an uncommon cause of hepatorenocardiac fibrosis.","authors":"Ana Plaza Fernández, Marta Fernández Carrasco, Teresa Jordán Madrid","doi":"10.17235/reed.2025.11135/2025","DOIUrl":"https://doi.org/10.17235/reed.2025.11135/2025","url":null,"abstract":"<p><p>Hepatorenocardiac fibrosis is a group of rare, clinically and genetically heterogeneous inherited disorders affecting the development and degenerative function of the liver and kidneys. It is associated with ciliopathies, a group of diseases characterized by dysfunction of the primary cilium, a key organelle in cell signaling. We present a clinical case of ciliopathy linked to a genetic alteration in the protein TULP3 (TUB Like Protein 3) as a cause of hepatorenocardiac fibrosis.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597527","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":"Diagnosis of metastatic melanoma in the liver. where can the primary tumor be found?","authors":"Belén Encarnación Andreo Vidal, Gonzalo Aranda Olaizola, Rocío Gómez Hidalgo, Diego Bueno Sacristán, Víctor Andrés Fierro Rosales, Carmen Alonso Martín, Fernando Geijo Martínez, Raquel Domínguez Gómez","doi":"10.17235/reed.2025.11105/2025","DOIUrl":"https://doi.org/10.17235/reed.2025.11105/2025","url":null,"abstract":"<p><p>The patient is a 57-year-old woman with a history of Hodgkin's lymphoma in remission. A routine analysis found hepatic profile alterations, and a full liver function test showed SOLs in a non-cirrhotic liver. An anatomopathological study revealed metastatic melanoma. The patient was referred to the Departments of Dermatology and Ophthalmology to locate the primary tumor and was diagnosed with stage IV choroidal melanoma.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597468","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":"Preserved mucosa unroofing facilitated closure of a large gastric defect after endoscopic full-thickness resection.","authors":"Kaisheng Zhang, Xue Xiao, Xianfei Zhong, Yu Tang","doi":"10.17235/reed.2024.10379/2024","DOIUrl":"10.17235/reed.2024.10379/2024","url":null,"abstract":"<p><p>A 58-year-old woman was found to have a submucosal bulging lesion in the anterior wall of the gastric fundus during a screening esophagogastroscopy. Endosonographic evaluation revealed it to be a 3.1×2.5cm, hypoechoic mass originating from muscularis propria (MP). Endoscopic full-thickness resection (EFR) was attempted. After submucosal injection, a four-fifth circumferential mucosal incision was made around the lesion. Submucosal dissection was performed to unroof the overlying mucosa, which was preserved via the remaining one-fifth circumferential mucosal edge. Thus a mucosal flap was created and turned aside to expose the mass. En bloc resection of the lesion resulted in a 3.5*3.0cm full-thickness defect . The mucosal flap was flipped back and the defect was almost fully covered. Therefore, closure of the defect was accomplished by simply clipping the two edges of the initially incised mucosa. The patient was discharged 2 days later without discomfort. Histopathology confirmed a gastrointestinal stromal tumor (GIST), prognostic group 1.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":"162-163"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140102379","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":"Double-balloon enteroscopy for the detection of GIST in a patient with type 1 neurofibromatosis.","authors":"Li-Liangzi Guo, Jie-Li Chen, Li-Sheng Wang, Jun Yao","doi":"10.17235/reed.2024.10351/2024","DOIUrl":"10.17235/reed.2024.10351/2024","url":null,"abstract":"<p><p>NF1 is an autosomal dominant hereditary disease, with a prevalence of at least 1 in 4000-5000 population. The diagnosis criteria of NF1 included typical manifestations such as café-au-lait spots, frecking in the axilla or inguinal region, multiple neurofibromas, Lisch nodeules, and distinctive osseous lesions. Genetic testing shows NF1 mutation. It is essential for tumor surveillance in NF1 patients because their life expectancy is about 54 years due to malignancy. A case of NF-1 patient receive laparoscopic small bowel resection and finally diagnosed as adenocarcinoma and ganglioneuroma. About 25% of NF1 patients had GISTs , most of them were asymptomatic and some may manifest with abdominal pain, bowel obstruction, or gastrointestinal bleeding. CT and MRI are commonly used imaging modalities for GIST in NF1, while they may be negative sometimes. As DBE a more practical and non-invasive method now, we consider it is a valuable method for screening and early detecting small intestine disease for NF1 patients.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":"161-162"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140102370","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":"Endoscopic manifestations of jejunal choriocarcinoma.","authors":"Yan Wang, Lei Diao, Pei-Pei Zhang, Xi Chen","doi":"10.17235/reed.2023.9714/2023","DOIUrl":"10.17235/reed.2023.9714/2023","url":null,"abstract":"<p><p>Choriocarcinoma, a malignant tumor deriving from the trophoblastic tissue, is mostly associated with adverse pregnancy. Early metastasis is very common in patient with choriocarcinoma, but the cases of intestinal metastasis are definitely rare. Herein, we reported a case of jejunal choriocarcinoma revealed by endoscopy. Segmental resection of the jejunum as well as biopsy of liver nodules were performed. The patient was classified as super high-risk choriocarcinoma and received chemotherapy and surgical treatment. Unfortunately, the patient ultimately died of liver rupture.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":"151-152"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9982977","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":"Lymphogranuloma venereum: an unusual cause of rectal stenosis.","authors":"Alejandro Hueso Mor, Ana Soto Sánchez, María de Armas-Conde, Ricardo Hernández-Alonso, Eduardo Pérez Sánchez, Moisés Hernández Barroso, Julio César Jordán-Balanzá","doi":"10.17235/reed.2024.10264/2024","DOIUrl":"10.17235/reed.2024.10264/2024","url":null,"abstract":"<p><p>Lymphogranuloma Venereum (LGV) is a notifiable disease linked to high-risk sexual practices such as cruising, chemsex, or orgies. The anorectal manifestation is associated with receptive anal sex and presents with characteristic symptoms such as proctitis, tenesmus, suppuration, and in advanced cases, anorectal fistulas or stenosis. The case of a 57-year-old man engaging in high-risk sexual practices is presented, showing symptoms such as discharge, fistulizations, rectal stenosis, and a weight loss of 15 kg. Following diagnostic studies, a neoplastic and inflammatory origin was ruled out, confirming the LGV diagnosis. Although the patient responded positively to a three-week course of doxycycline, the stenosis persisted, ultimately necessitating a terminal colostomy. The patient was scheduled to undergo a protectomy to control the inflammatory and infectious process, a procedure that took place months later without significant incidents. The primary treatment for LGV continues to be doxycycline. In cases of complications, such as fistulas, abscesses, or stenosis, surgical interventions, drainage, or pneumatic dilations may be necessary.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":"171-172"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139723820","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":"An uncommon cause of dysphagia: esophagitis dissecans superficialis secondary to bullous pemphigoid after vaccination for SARS-CoV-2.","authors":"Sara Sánchez Moreno, Marta Fernández Carrasco, Sebastián Pinochet Almonacid, Matías Estévez Escobar","doi":"10.17235/reed.2024.10845/2024","DOIUrl":"10.17235/reed.2024.10845/2024","url":null,"abstract":"<p><p>Esophagitis dissecans superficialis (EDS) is an uncommon condition that is infrequently associated with autoimmune dermatoses. We present the case of a 75-year-old patient who developed EDS secondary to bullous pemphigoid after vaccination against SARS-CoV-2, with typical endoscopic and histological findings.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":"173-174"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142627038","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":"Virtual chromoendoscopy for the identification of colonic dysplasia in patients with inflammatory bowel disease. A systematic review.","authors":"Antonio López-Serrano, Luis Pretel","doi":"10.17235/reed.2025.9878/2023","DOIUrl":"10.17235/reed.2025.9878/2023","url":null,"abstract":"<p><p>Patients with inflammatory bowel disease (IBD) in the colon have a higher risk for colorectal cancer (CRC). Virtual chromoendoscopy (VCE) allows identification and assessment of colonic dysplasia, which might displace dye-based chromoendoscopy (DCE) as the endoscopist's technique of choice for these patients within endoscopic surveillance programs.</p><p><strong>Objective: </strong>to analyze the best evidence available on the usefulness of VCE versus DCE for dysplasia identification in patients with long-standing colonic IBD.</p><p><strong>Material and methods: </strong>a qualitative, PRISMA 2020-based systematic review of the literature was carried out in the PubMed, Science Direct, and Scielo databases until June 2023. Clinical trials, case-control studies, comparative studies, and crossover studies in English or Spanish were included that directly compared DCE versus VCE for the screening of colonic dysplasia in patients with IBD. The Quality Assessment of Diagnostic Accuracy studies (QUADAS) 2 was used for assessing study quality. The selected studies were evaluated by 2 independent researchers, who entered their abstracted results into a database.</p><p><strong>Results: </strong>out of 141 identified studies 9 were selected that compared DCE with VCE (1131 patients included). Six studies are prospective, randomized, controlled trials; 2 are retrospective case-control studies; and 1 is a prospective comparative study. VCE showed a dysplasia detection ability similar to that of DCE, albeit with shorter examination times (8 studies; 985 patients). Factors associated with dysplasia identification included lesions in the right colon (3 studies; 581 patients); non-polypoid lesions (1 study; 210 patients) and/or lesions with Kudo's type III-V pit patterns (2 studies; 254 patients); and patient age (1 study; 129 patients).</p><p><strong>Conclusions: </strong>VCE may be an alternative to DCE for CRC screening in patients with long-standing IBD, with similar detection ability for colonic dysplasia and the benefit of shorter procedure times. Currently available evidence is limited in this regard given the small numbers of patients in the relevant studies, hence further research is necessary with greater numbers of included subjects.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":"117 ","pages":"136-147"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450103","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":"Infectious esophagitis in immunocompetent individuals: case series in a tertiary care hospital.","authors":"Isabel González Puente, Carolina Broco Fernández, Laura Alcoba Vega, Raisa Quiñones Castro","doi":"10.17235/reed.2024.10274/2024","DOIUrl":"10.17235/reed.2024.10274/2024","url":null,"abstract":"<p><p>The prevalence of infectious esophagitis in immunocompetent people is low. The main etiological agent is HSV1, affecting mainly young men4 with intense odynophagia and dysphagia. It is unknown whether SARS-CoV-2 infection or its vaccine are predisposing factors. The objective is to determine the clinical, diagnostic, endoscopic and therapeutic characteristics of patients diagnosed with viral esophagitis since the beginning of the pandemic.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":"166-168"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139672552","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":"Functional paraganglioma, an uncommon cause of seminoma metastasis, diagnostic and therapeutic management.","authors":"Alberto García Picazo, José Sáez, Alba Aramburu, Xavier Centeno, Cleofé Romagosa, Alberto Díez-Caballero Alonso","doi":"10.17235/reed.2024.10232/2023","DOIUrl":"10.17235/reed.2024.10232/2023","url":null,"abstract":"<p><p>We report a 62-year-old male, with history of uncontrolled hypertension (3 drugs) in who, it was found an incidentally left retroperitoneal hypervascular tumor (5.7 x 3.5 cm) in the CT. It was demonstrated contact between tumor and left renal artery and ureter, without regional lymphadenopathy. The patient was asymptomatic, but had increased of norepinephrine (1141.1 pg/mL), epinephrine (93.3 pg/mL) and serotonin blood levels (264.1 g/L). The MRI confirm the tumor, with serotonin affinity in the 68Galium-Edotreotide PET/CT (DOTATATE) but not in the MIBG/Scan. Therefore, a paraganglioma was the suspected diagnosis. Tumor board recommended excision, due to the risk of being a functional paraganglioma. The tumor was resected through laparoscopic approach after alpha-beta-adrenergic blockade. Postoperatively, hypertension and norepinephrine blood levels were normalized. The histological report surprisingly showed a Seminoma (positivity for PLAP, OCT ¾, c-kit, MDM2) and the surgical margins were free.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":"163-164"},"PeriodicalIF":2.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139570512","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}