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BACKGROUND: Both hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) are known to be caused by SMAD4 pathogenic variants, with overlapping symptoms for both disorders in some patients. Additional connective tissue disorders have also been reported. Here, we describe carriers of SMAD4 variants followed in an HHT reference centre to further delineate the phenotype. METHODS: Observational study based on data collected from the Clinical Investigation for the Rendu-Osler Cohort database. RESULTS: Thirty-three participants from 15 families, out of 1114 patients with HHT, had an SMAD4 variant (3%).Regarding HHT, 26 out of 33 participants (88%) had a definite clinical diagnosis based on Curaçao criteria. Complication frequencies were as follows: epistaxis (n=27/33, 82%), cutaneous telangiectases (n=19/33, 58%), pulmonary arteriovenous malformations (n=17/32, 53%), hepatic arteriovenous malformations (AVMs) (n=7/18, 39%), digestive angiodysplasia (n=13/22, 59%). No cerebral AVMs were diagnosed.Regarding juvenile polyposis, 25 out of 31 participants (81%) met the criteria defined by Jass et al for juvenile polyposis syndrome. Seven patients (21%) had a prophylactic gastrectomy due to an extensive gastric polyposis incompatible with endoscopic follow-up, and four patients (13%) developed a digestive cancer.Regarding connective tissue disorders, 20 (61%) had at least one symptom, and 4 (15%) participants who underwent echocardiography had an aortic dilation. CONCLUSION: We describe a large cohort of SMAD4 variant carriers in the context of HHT. Digestive complications are frequent, early and diffuse, justifying endoscopy every 2 years. The HHT phenotype, associating pulmonary and hepatic AVMs, warrants systematic screening. Connective tissue disorders broaden the phenotype associated with SMAD4 gene variants and justify systematic cardiac ultrasound and skeletal complications screening.
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Fenotipo , Proteína Smad4 , Telangiectasia Hemorrágica Hereditaria , Humanos , Proteína Smad4/genética , Telangiectasia Hemorrágica Hereditaria/genética , Telangiectasia Hemorrágica Hereditaria/patología , Femenino , Masculino , Adulto , Persona de Mediana Edad , Poliposis Intestinal/genética , Poliposis Intestinal/congénito , Poliposis Intestinal/patología , Heterocigoto , Anciano , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/patología , Síndromes Neoplásicos Hereditarios/diagnóstico , Adolescente , Predisposición Genética a la Enfermedad , Mutación/genética , Adulto JovenRESUMEN
A substantial number of hereditary colorectal cancer (CRC) and colonic polyposis cannot be explained by alteration in confirmed predisposition genes, such as mismatch repair (MMR) genes, APC and MUTYH. Recently, a certain number of potential predisposition genes have been suggested, involving each a small number of cases reported so far. Here, we describe the detection of rare variants in the NTLH1, AXIN2, RNF43, BUB1, and TP53 genes in nine unrelated patients who were suspected for inherited CRC and/or colonic polyposis. Seven of them were classified as pathogenic or likely pathogenic variants (PV/LPV). Clinical manifestations of carriers were largely consistent with reported cases with, nevertheless, distinct characteristics. PV/LPV in these uncommon gene can be responsible for up to 2.7% of inherited CRC or colonic polyposis syndromes. Our findings provide supporting evidence for the role of these genes in cancer predisposition, and contribute to the determination of related cancer spectrum and cancer risk for carriers, allowing for the establishment of appropriate screening strategy and genetic counseling in affected families.
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Poliposis Adenomatosa del Colon , Predisposición Genética a la Enfermedad , Humanos , Femenino , Masculino , Persona de Mediana Edad , Adulto , Poliposis Adenomatosa del Colon/genética , Ubiquitina-Proteína Ligasas/genética , Proteína Axina/genética , Neoplasias Colorrectales/genética , Proteína p53 Supresora de Tumor/genética , Anciano , Proteínas Serina-Treonina Quinasas/genética , Proteínas de Unión al ADN/genética , Desoxirribonucleasa (Dímero de Pirimidina)RESUMEN
BACKGROUND & AIMS: The majority of patients with familial adenomatous polyposis (FAP) develop duodenal adenomas with a risk of progression to duodenal cancer. Endoscopic management of FAP duodenal adenomas has been proposed as a less-invasive option than surgery, but available data still are limited. Our aims were to assess the feasibility and safety of endoscopic treatment in duodenal polyposis and to evaluate its long-term efficacy in terms of recurrence and malignant degeneration. METHODS: FAP patients with stage IV duodenal polyposis were enrolled in 5 French centers as part of a national cohort and followed up for a median period of 5.66 years (interquartile range, 6.39 y). Primary outcomes were duodenal surgery-free and cancer-free survival. Two groups of patients were identified according to endoscopic procedures: group 1: resection and or destruction (by argon plasma coagulation) of duodenal polyps, and group 2: papillectomy. RESULTS: Fifty-eight patients were enrolled (29 men; median age, 44 y). Endoscopic therapy was performed in 37 patients in group 1 and in 19 patients in group 2. Duodenal cancer-free and surgery-free survival were 95.8% at 5 years and 92.6% at 10 years. Four patients required surgery and 2 patients developed cancers. In the 58 patients, the calculated Spigelman score decreased from 9.24 points at entry to 6.35 at 5 years and then plateaued. Complications (mostly bleeding and perforation) occurred in 20 patients. CONCLUSIONS: In this long-term cohort follow-up evaluation, endoscopic treatment of patients with severe duodenal polyposis appears relatively safe and effective as an alternative to surgery for the prevention of cancer.
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Poliposis Adenomatosa del Colon , Humanos , Masculino , Poliposis Adenomatosa del Colon/cirugía , Femenino , Adulto , Persona de Mediana Edad , Resultado del Tratamiento , Francia/epidemiología , Neoplasias Duodenales/cirugía , Estudios de Seguimiento , Análisis de Supervivencia , Anciano , Adulto JovenRESUMEN
BACKGROUND AND AIMS: Juvenile polyposis syndrome (JPS) is a rare hereditary autosomal dominant cancer-predisposition syndrome caused by germline pathogenic variants (PVs) located in SMAD4 or BMPR1A genes. Accurate clinical and endoscopic data regarding the evolution of gastric lesions remain sparse. METHODS: Clinical, endoscopic, genetic, and pathologic data from patients with SMAD4 or BMPR1A PVs included between 2007 and 2020 in the French network on rare digestive polyposis (RENAPOL [French National Polyposis Register]) database were prospectively collected to address uncertainties regarding gastric involvement. RESULTS: Thirty-six patients were included: 25 (69.5%) had SMAD4 PVs, and 11 had BMPR1A PVs. For SMAD4 PV carriers, median age at inclusion was 43.0 years (range, 10-78 years). At baseline EGD, 22 (88%) of 25 patients exhibited at least 1 gastric juvenile polyp, and 5 (20%) of 25 had macroscopic signs of inflammatory gastritis. Early gastric disease was mostly located under the cardia, then progressed to the gastric antrum and body. During a mean follow-up period of 55.0 months, 12 of 25 patients had gastric disease progression (ie, new juvenile polyps [91.6%], diffuse gastric involvement [41.6%], inflammatory flat progression [25%]). Among 62 biopsies, low-grade dysplasia was observed in 5 (7.5%) samples from 2 patients. Nine carriers (36%) underwent gastrectomy (mean age, 47.2 years) due to diffuse gastric involvement or worsening clinical symptoms. Gastric adenocarcinoma (T1) was found in 1 gastrectomy specimen. Among the 11 patients with BMPR1A PVs, 2 had gastric hamartomatomas at baseline EGD, none with dysplasia or symptoms. CONCLUSIONS: Gastric involvement in JPS seems to be progressive over a lifetime, initiates in the cardia area, and mostly involves SMAD4 PV carriers.
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INTRODUCTION: The environmental impact of endoscopy, including small-bowel capsule endoscopy (SBCE), is a topic of growing attention and concern. This study aimed to evaluate the greenhouse gas (GHG) emissions (kgCO2) generated by an SBCE procedure. METHODS: Life cycle assessment methodology (ISO 14040) was used to evaluate three brands of SBCE device and included emissions generated by patient travel, bowel preparation, capsule examination, and video recording. A survey of 87 physicians and 120 patients was conducted to obtain data on travel, activities undertaken during the procedure, and awareness of environmental impacts. RESULTS: The capsule itself (4âg) accounted forâ<â6â% of the total product weight. Packaging (43-119âg) accounted for 9â%-97â% of total weight, and included deactivation magnets (5âg [4â%-6â%]) and paper instructions (11-50âg [up to 40â%]). A full SBCE procedure generated approximately 20âkgCO2, with 0.04âkgCO2 (0.2â%) attributable to the capsule itself and 18âkgCO2 (94.7â%) generated by patient travel. Capsule retrieval using a dedicated device would add 0.98âkgCO2 to the carbon footprint. Capsule deconstruction revealed materials (e.âg. neodymium) that are prohibited from environmental disposal; 76â% of patients were not aware of the illegal nature of capsule disposal via wastewater, and 63â% would have been willing to retrieve it. The carbon impact of data storage and capsule reading was negligible. CONCLUSION: The carbon footprint of SBCE is mainly determined by patient travel. The capsule device itself has a relatively low carbon footprint. Given that disposal of capsule components via wastewater is illegal, retrieval of the capsule is necessary but would likely be associated with an increase in device-related emissions.
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Endoscopía Capsular , Intestino Delgado , Humanos , Endoscopía Capsular/métodos , Endoscopía Capsular/instrumentación , Intestino Delgado/diagnóstico por imagen , Huella de Carbono , Viaje , Endoscopios en Cápsulas , Gases de Efecto Invernadero/efectos adversos , Gases de Efecto Invernadero/análisis , Masculino , Adulto , FemeninoRESUMEN
Only a few patients with germline AXIN2 variants and colorectal adenomatous polyposis or cancer have been described, raising questions about the actual contribution of this gene to colorectal cancer (CRC) susceptibility. To assess the clinical relevance for AXIN2 testing in patients suspected of genetic predisposition to CRC, we collected clinical and molecular data from the French Oncogenetics laboratories analyzing AXIN2 in this context. Between 2004 and June 2020, 10 different pathogenic/likely pathogenic AXIN2 variants were identified in 11 unrelated individuals. Eight variants were from a consecutive series of 3322 patients, which represents a frequency of 0.24%. However, loss-of-function AXIN2 variants were strongly associated with genetic predisposition to CRC as compared with controls (odds ratio: 11.89, 95% confidence interval: 5.103-28.93). Most of the variants were predicted to produce an AXIN2 protein devoid of the SMAD3-binding and DIX domains, but preserving the ß-catenin-binding domain. Ninety-one percent of the AXIN2 variant carriers who underwent colonoscopy had adenomatous polyposis. Forty percent of the variant carriers developed colorectal or/and other digestive cancer. Multiple tooth agenesis was present in at least 60% of them. Our report provides further evidence for a role of AXIN2 in CRC susceptibility, arguing for AXIN2 testing in patients with colorectal adenomatous polyposis or cancer.
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Poliposis Adenomatosa del Colon , Neoplasias Colorrectales , Humanos , Predisposición Genética a la Enfermedad , Poliposis Adenomatosa del Colon/genética , Poliposis Adenomatosa del Colon/patología , Mutación de Línea Germinal , beta Catenina/metabolismo , Células Germinativas/metabolismo , Neoplasias Colorrectales/genética , Neoplasias Colorrectales/patología , Proteína Axina/genéticaRESUMEN
BACKGROUND: Bevacizumab-a humanized monoclonal antibody-has been widely used to treat patients with hereditary hemorrhagic telangiectasia (HHT), but no randomized trial has yet been conducted. METHODS: This study is a double-blind multicenter randomized phase 2 trial with a 1:1 active-treatment-to-placebo ratio. We included patients over the age of 18 with a confirmed diagnosis and the need for at least four red blood cell (RBC) units transfused in the 3 months before study enrollment. Bevacizumab was administered at a dose of 5 mg/kg every 14 days with a total of six injections. The primary efficacy criterion was a decrease of at least 50% in the cumulative number of RBC units transfused in a 3-month period before and after treatment. RESULTS: A total of 24 patients (12 in each group) were included and randomized at 4 different centers. In intention-to-treat analysis, 63.6% of patients (7/11) in the bevacizumab group versus 33.3% of patients (4/12) in the placebo group decreased the number of blood transfusions by at least 50% (p = 0.22). Hemoglobin levels significantly improved at 6 months in the bevacizumab versus placebo group (p = 0.02). The pharmacokinetics study revealed that patients with high exposure to bevacizumab had a significant decrease in RBC transfusions (p = 0.03). Fifty-nine adverse events were observed, 34 in the placebo arm versus 25 in the bevacizumab arm. CONCLUSION: Though the present trial was underpowered, patients with HHT receiving bevacizumab required numerically fewer red blood cell transfusions than those receiving placebo, particularly those with high exposure.
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Hemorragia , Telangiectasia Hemorrágica Hereditaria , Adulto , Humanos , Persona de Mediana Edad , Anticuerpos Monoclonales Humanizados/efectos adversos , Bevacizumab/efectos adversos , Hemorragia/tratamiento farmacológico , Telangiectasia Hemorrágica Hereditaria/complicaciones , Telangiectasia Hemorrágica Hereditaria/tratamiento farmacológico , Resultado del Tratamiento , Método Doble CiegoRESUMEN
MR1: ESGE recommends small-bowel capsule endoscopy as the first-line examination, before consideration of other endoscopic and radiological diagnostic tests for suspected small-bowel bleeding, given the excellent safety profile of capsule endoscopy, its patient tolerability, and its potential to visualize the entire small-bowel mucosa.Strong recommendation, moderate quality evidence. MR2: ESGE recommends small-bowel capsule endoscopy in patients with overt suspected small-bowel bleeding as soon as possible after the bleeding episode, ideally within 48 hours, to maximize the diagnostic and subsequent therapeutic yield.Strong recommendation, high quality evidence. MR3: ESGE does not recommend routine second-look endoscopy prior to small-bowel capsule endoscopy in patients with suspected small-bowel bleeding or iron-deficiency anemia.Strong recommendation, low quality evidence. MR4: ESGE recommends conservative management in those patients with suspected small-bowel bleeding and high quality negative small-bowel capsule endoscopy.Strong recommendation, moderate quality evidence. MR5: ESGE recommends device-assisted enteroscopy to confirm and possibly treat lesions identified by small-bowel capsule endoscopy.Strong recommendation, high quality evidence. MR6: ESGE recommends the performance of small-bowel capsule endoscopy as a first-line examination in patients with iron-deficiency anemia when small bowel evaluation is indicated.Strong recommendation, high quality evidence. MR7: ESGE recommends small-bowel capsule endoscopy in patients with suspected Crohn's disease and negative ileocolonoscopy findings as the initial diagnostic modality for investigating the small bowel, in the absence of obstructive symptoms or known bowel stenosis.Strong recommendation, high quality evidence. MR8: ESGE recommends, in patients with unremarkable or nondiagnostic findings from dedicated small-bowel cross-sectional imaging, small-bowel capsule endoscopy as a subsequent investigation if deemed likely to influence patient management.Strong recommendation, low quality evidence. MR9: ESGE recommends, in patients with established Crohn's disease, the use of a patency capsule before small-bowel capsule endoscopy to decrease the capsule retention rate.Strong recommendation, moderate quality evidence. MR10: ESGE recommends device-assisted enteroscopy (DAE) as an alternative to surgery for foreign bodies retained in the small bowel requiring retrieval in patients without acute intestinal obstruction.Strong recommendation, moderate quality evidence. MR11: ESGE recommends DAE-endoscopic retrograde cholangiopancreatography (DAE-ERCP) as a first-line endoscopic approach to treat pancreaticobiliary diseases in patients with surgically altered anatomy (except for Billroth II patients).Strong recommendation, moderate quality evidence.
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Anemia Ferropénica , Endoscopía Capsular , Enfermedad de Crohn , Enfermedades Intestinales , Humanos , Anemia Ferropénica/diagnóstico , Anemia Ferropénica/etiología , Anemia Ferropénica/terapia , Endoscopía Gastrointestinal/métodos , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/etiología , Hemorragia Gastrointestinal/terapia , Enfermedades Intestinales/diagnóstico , Enfermedades Intestinales/terapiaRESUMEN
INTRODUCTION: The aim of our study was to compare clear liquid diet with 2 different polyethylene glycol (PEG)-based bowel preparation methods regarding diagnostic yield of small bowel capsule endoscopy (SBCE) in patients with suspected small bowel bleeding (SBB). METHODS: In this prospective multicenter randomized controlled trial, consecutive patients undergoing SBCE for suspected SBB between September 2010 and February 2016 were considered. Patients were randomly assigned to standard regimen, that is, clear fluids only (prep 1), standard regimen plus 500 mL PEG after SBCE ingestion (prep 2), or standard regimen plus 2 L PEG plus 500 mL PEG after SBCE ingestion (prep 3). The primary outcome was the detection of at least one clinically significant lesion in the small bowel. The quality of small bowel cleansing was assessed. A questionnaire on the clinical tolerance was filled by the patients. RESULTS: We analyzed 834 patients. No significant difference was observed for detection of P1 or P2 small bowel lesions between prep1 group (40.5%), prep 2 group (40.2%), and prep 3 group (38.5%). Small bowel cleansing was improved in prep 2 and 3 groups compared with that in prep 1 group. Compliance to the preparation and tolerance was better in prep 2 group than in prep 3 group. DISCUSSION: Small bowel purgative before SBCE allowed better quality of cleansing. However, it did not improve diagnostic yield of SBCE for suspected SBB.
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Endoscopía Capsular/instrumentación , Catárticos/farmacología , Hemorragia Gastrointestinal/diagnóstico , Intestino Delgado/diagnóstico por imagen , Cooperación del Paciente , Polietilenglicoles/farmacología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Tensoactivos/farmacologíaRESUMEN
BACKGROUND : Motorized spiral enteroscopy (MSE) has been shown to be safe and effective for deep enteroscopy in studies performed at expert centers with limited numbers of patients without previous abdominal surgery. This study aimed to investigate the safety, efficacy, and learning curve associated with MSE in a real-life scenario, with the inclusion of patients after abdominal surgery and with altered anatomy. METHODS : Patients with indications for deep enteroscopy were enrolled in a prospective observational multicenter study. The primary objective was the serious adverse event (SAE) rate; secondary objectives were the diagnostic and therapeutic yield, procedural success, time, and insertion depth. Data analysis was subdivided into training and core (post-training) study phases at centers with different levels of MSE experience. RESULTS : 298 patients (120 women; median age 68, range 19-92) were enrolled. In the post-training phase, 21.5â% (nâ=â54) had previous abdominal surgery, 10.0â% (nâ=â25) had surgically altered anatomy. Overall, SAEs occurred in 2.3â% (7/298; 95â%CI 0.9â%-4.8â%). The SAE rate was 2.0â% (5/251) in the core group and 4.3â% (2/47) in the training group, and was not increased after abdominal surgery (1.9â%). Total enteroscopy was achieved in half of the patients (nâ=â42) undergoing planned total enteroscopy. In 295/337 procedures (87.5â%), the anatomical region of interest could be reached. CONCLUSIONS : This prospective multicenter study showed that MSE was feasible and safe in a large cohort of patients in a real-life setting, after a short learning curve. MSE was shown to be feasible in postsurgical patients, including those with altered anatomy, without an increase in the SAE rate.
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Endoscopía Gastrointestinal , Laparoscopía , Humanos , Femenino , Anciano , Estudios Prospectivos , Endoscopía Gastrointestinal/efectos adversos , Endoscopía Gastrointestinal/métodos , Tracto Gastrointestinal , Estudios de Cohortes , Enteroscopía de Doble BalónRESUMEN
BACKGROUND: Cleanliness scores in small-bowel capsule endoscopy (SBCE) have poor reproducibility. The aim of this study was to evaluate a neural network-based algorithm for automated assessment of small-bowel cleanliness during capsule endoscopy. METHODS: 600 normal third-generation SBCE still frames were categorized as "adequate" or "inadequate" in terms of cleanliness by three expert readers, according to a 10-point scale, and served as a training database. Then, 156 third-generation SBCE recordings were categorized in a consensual manner as "adequate" or "inadequate" in terms of cleanliness; this testing database was split into two independent 78-video subsets for the tuning and evaluation of the algorithm, respectively. RESULTS: Using a threshold of 79â% "adequate" still frames per video to achieve the best performance, the algorithm yielded a sensitivity of 90.3â%, specificity of 83.3â%, and accuracy of 89.7â%. The reproducibility was perfect. The mean calculation time per video was 3 (standard deviation 1) minutes. CONCLUSION: This neural network-based algorithm allowing automatic assessment of small-bowel cleanliness during capsule endoscopy was highly sensitive and paves the way for automated, standardized SBCE reports.
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Endoscopía Capsular , Algoritmos , Humanos , Intestino Delgado/diagnóstico por imagen , Redes Neurales de la Computación , Reproducibilidad de los ResultadosRESUMEN
Climate change has been described as the greatest public health threat of the 21st century. It has significant implications for digestive health. A multinational team with representation from all continents, excluding Antarctica and covering 18 countries, has formulated a commentary which outlines both the implications for digestive health and ways in which this challenge can be faced.
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Cambio Climático , Gastroenterología , HumanosRESUMEN
INTRODUCTION: Different treatments exist for Zenker diverticulum. We compared flexible endoscopic myotomy of the cricopharyngeal muscle, using a technique called the "window technique" in order to improve the field of view, to surgical approaches. MATERIALS AND METHODS: Patients were retrospectively included and divided into a gastrointestinal group, with flexible endoscopic myotomy, and an ear-nose-throat treatments group with either rigid endoscopic treatment, either cervicotomy. We evaluated effectiveness in terms of quality of life (on a scale on 0 to 10) safety and technical aspects of each procedure. RESULTS: A total 106 patients who underwent 128 interventions were included. Rigid endoscopic procedures were the shortest (p < 0.001), with no difference for adverse event. Endoscopic approaches, flexible and rigid ones, were associated with shorter time to intake resumption (1 and 3 days, respectively, vs 6 after cervicotomy) and shorter length of hospital stay (3 and 4 days, respectively, vs 7 after cervicotomy) (p = 0.001). Post-operative QoL was better after flexible endoscopy (9/10) and open cervicotomy (9/10) than after rigid endoscopy (7/10) (p = 0.004). Patients declared fewer residual symptoms after open cervicotomy (77% of low symptomatic patients) and flexible endoscopy (80%) than after rigid endoscopy (43%) (p = 0.003). Conversion to open surgery was more frequent during rigid than flexible endoscopies (18% vs 0%, p = 0.0008). CONCLUSION: Flexible endoscopic approach of Zenker diverticulum treatment seems to be safe and effective and may be an alternative to surgical approaches. Myotomy can be eventually helped by the window technique.
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Miotomía , Divertículo de Zenker , Endoscopía , Esofagoscopía , Humanos , Calidad de Vida , Estudios Retrospectivos , Resultado del Tratamiento , Divertículo de Zenker/cirugíaRESUMEN
Liver transplantation (LT) has been proposed as a curative treatment in hereditary hemorrhagic telangiectasia (HHT) with severe hepatic involvement. We provide a long-term evaluation of graft status after LT for HHT, with a focus on the risk of recurrence. The present study included all patients prospectively followed up after LT for HHT in the Lyon Liver Transplant Unit from 1993 to 2010, with a survival of more than 1 year. Protocol clinical, radiological, and histological examinations were performed at regular intervals. Fourteen patients were included (13 women and one man). Median age at LT was 52.5 years (range: 33.1-66.7). In eight patients (seven female), disease recurrence was diagnosed by abnormal radiological features, suggestive of microcirculatory disturbances. Typical vascular lesions, including telangiectasia, were demonstrated by liver biopsy in five of these patients. The median interval between LT and diagnosis of recurrence was 127 months (range: 74-184). The risk of recurrence increased over time; estimated cumulative risk was 47.9% at 15 years. Liver tissue analysis found the coexistence of an angiogenic process combined with endothelial microchimerism, as shown by the presence of vascular lining cells of recipient origin. Conclusion: The present data show that disease recurrence occurs, usually after a long delay, in a significant number of patients treated by LT for liver complications of HHT. This strongly supports the necessity of a lifelong follow-up and suggests that therapeutic strategy needs discussion and evaluation, especially of the role of potential adjuvant treatments to LT, such as antiangiogenic medications, when recurrent disease appears.
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Trasplante de Hígado , Complicaciones Posoperatorias/epidemiología , Telangiectasia Hemorrágica Hereditaria/cirugía , Adulto , Anciano , Femenino , Estudios de Seguimiento , Francia/epidemiología , Humanos , Hígado/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/diagnóstico por imagen , Recurrencia , Telangiectasia Hemorrágica Hereditaria/diagnóstico por imagen , Telangiectasia Hemorrágica Hereditaria/epidemiología , Trasplantes/diagnóstico por imagenRESUMEN
BACKGROUNDS AND AIMS: A typical capsule endoscopy (CE) case generates tens of thousands of images, with abnormalities often confined to a just few frames. Omni Mode is a novel EndoCapsule software algorithm (Olympus, Tokyo, Japan) that proposes to intelligently remove duplicate images while maintaining accuracy in lesion detection. METHODS: This prospective multicenter study took place across 9 European centers. Consecutive, unselected CE cases were read conventionally in normal mode, with every captured frame reviewed. Cases were subsequently anonymized and randomly allocated to another center where they were read using Omni Mode. Detected lesions and reading times were recorded, with findings compared between both viewing modes. The clinical significance of lesions was described according to the P classification (P0, P1, and P2). Where a discrepancy in lesion detection in either mode was found, expert blinded review at a consensus meeting was undertaken. RESULTS: The patient population undergoing CE had a mean age of 49.5 years (range, 18-91), with the investigation of anemia or GI bleeding accounting for 71.8% of cases. The average small-bowel transit time was 4 hours, 26 minutes. The mean reading time in normal mode was 42.5 minutes. The use of Omni Mode was significantly faster (P < .0001), with an average time saving of 24.6 minutes (95% confidence interval, 22.8-26.9). The 2127 lesions were identified and classified according to the P classification as P0 (1234), P1 (656), and P2 (237). Lesions were identified using both reading modes in 40% (n = 936), and 1186 lesions were identified by either normal or Omni Mode alone. Normal mode interpretation was associated with 647 lesions being missed, giving an accuracy of .70. Omni Mode interpretation led to 539 lesions being missed, with an accuracy of .75. There was no significant difference in clinical conclusions made between either reading mode. CONCLUSIONS: This study shows that CE reading times can be reduced by an average of 40%, without any reduction in clinical accuracy.
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Endoscopía Capsular , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Humanos , Japón , Persona de Mediana Edad , Estudios Prospectivos , Lectura , Programas Informáticos , Adulto JovenRESUMEN
BACKGROUND: Endoscopic submucosal dissection (ESD) of residual or locally recurrent (RLR) colonic lesions after previous endoscopic mucosal resection (EMR) is an attractive but challenging technique. The present study aimed to evaluate the effectiveness and safety of ESD with double clip and rubber band traction (DCT-ESD) of RLR colonic lesions. METHODS: We retrospectively analyzed all consecutive DCT-ESD procedures for RLR colonic lesions (rectum excluded) performed in two French centers. The frequency of en bloc and R0 resections, procedure speed, additional surgery, and complications were evaluated. R0 resection was also used to investigate the learning curve. RESULTS: Among the 53 resections, 49 (92.5â%) were performed en bloc and 42 (79.2â%) achieved R0.âThe median procedure speed was 21âmm2/min. There were four (7.5â%) intraoperative perforations and one delayed bleeding; these were successfully treated endoscopically. There was no salvage surgery for complications. The R0 rate increased from 16/26 (61.5â%) for the first 26 procedures to 26/27 (96.3â%, Pâ=â0.002) for the last 27 procedures. CONCLUSIONS: DCT-ESD appears to be a safe and effective treatment for RLR colonic lesions after EMR.
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Resección Endoscópica de la Mucosa , Disección/efectos adversos , Resección Endoscópica de la Mucosa/efectos adversos , Humanos , Estudios Retrospectivos , Instrumentos Quirúrgicos , Tracción , Resultado del TratamientoRESUMEN
BACKGROUND: Gastric hyperplastic polyps (GHPs) have a risk of neoplastic transformation reaching 5â%. Current endoscopic resection techniques appear suboptimal with a high risk of local recurrence. This study assessed the outcomes of endoscopic resection for GHPs and identified risk factors for recurrence and neoplastic transformation. METHODS: This retrospective, multicenter, European study included adult patients with at least one GHP ≥â10âmm who underwent endoscopic resection and at least one follow-up endoscopy. Patients with recurrent GHPs or hereditary gastric polyposis were excluded. All data were retrieved from the endoscopy, pathology, and hospitalization reports. RESULTS: From June 2007 to August 2018, 145 GHPs in 108 patients were included. Recurrence after endoscopic resection was 51.0â% (74â/145) in 55 patients. R0 resection or en bloc resection did not impact the risk of polyp recurrence. In multivariate analysis, cirrhosis was the only risk factor for recurrence (odds ratio [OR] 4.82, 95â% confidence interval [CI] 1.33â-â17.46; Pâ=â0.02). Overall, 15 GHPs (10.4â%) showed neoplastic transformation, with size >â25âmm (OR 10.24, 95â%CI 2.71â-â38.69; Pâ<â0.001) and presence of intestinal metaplasia (OR 5.93, 95â%CI 1.56â-â22.47; Pâ=â0.01) being associated with an increased risk of neoplastic transformation in multivariate analysis. CONCLUSIONS: Results confirmed the risk of recurrence and neoplastic transformation of large GHPs. The risk of neoplastic change was significantly increased for lesions >â25âmm, with a risk of high grade dysplasia appearing in polyps ≥â50âmm. The risk of recurrence was high, particularly in cirrhosis patients, and long-term follow-up is recommended in such patients.
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Pólipos Adenomatosos , Pólipos , Neoplasias Gástricas , Adulto , Endoscopía , Humanos , Recurrencia Local de Neoplasia , Pólipos/cirugía , Estudios Retrospectivos , Neoplasias Gástricas/cirugíaRESUMEN
Performance of endoscopic procedures is associated with a risk of infection from COVID-19. This risk can be reduced by the use of personal protective equipment (PPE). However, shortage of PPE has emerged as an important issue in managing the pandemic in both traditionally high and low-resource areas. A group of clinicians and researchers from thirteen countries representing low, middle, and high-income areas has developed recommendations for optimal utilization of PPE before, during, and after gastrointestinal endoscopy with particular reference to low-resource situations. We determined that there is limited flexibility with regard to the utilization of PPE between ideal and low-resource settings. Some compromises are possible, especially with regard to PPE use, during endoscopic procedures. We have, therefore, also stressed the need to prevent transmission of COVID-19 by measures other than PPE and to conserve PPE by reduction of patient volume, limiting procedures to urgent or emergent, and reducing the number of staff and trainees involved in procedures. This guidance aims to optimize utilization of PPE and protection of health care providers.
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Infecciones por Coronavirus/prevención & control , Endoscopía Gastrointestinal/economía , Recursos en Salud/economía , Transmisión de Enfermedad Infecciosa de Paciente a Profesional/prevención & control , Pandemias/prevención & control , Equipo de Protección Personal/normas , Neumonía Viral/prevención & control , Guías de Práctica Clínica como Asunto , COVID-19 , Infecciones por Coronavirus/epidemiología , Endoscopía Gastrointestinal/estadística & datos numéricos , Femenino , Gastroenterología/normas , Salud Global , Humanos , Control de Infecciones/organización & administración , Internacionalidad , Masculino , Salud Laboral/estadística & datos numéricos , Pandemias/estadística & datos numéricos , Equipo de Protección Personal/estadística & datos numéricos , Neumonía Viral/epidemiología , Pobreza , Sociedades MédicasRESUMEN
INTRODUCTION: Colonoscopic screening with indigo carmine chromoendoscopy (ICC) in patients with Lynch syndrome (LS) improves the adenoma detection rate but is time consuming and poorly used in clinical practice. Narrow-band imaging (NBI), a virtual chromoendoscopy technique, highlights superficial mucosal vessels and improves adenoma characterization. We conducted a prospective multicenter trial in a back-to-back fashion to compare the third-generation NBI with ICC for detecting colonic adenomas in patients with LS. METHODS: In a multicenter, prospective, noninferiority trial, 138 patients underwent a double colonoscopy, first with NBI, followed by ICC, in a back-to-back design. The primary noninferiority outcome measure was the number of patients with at least one adenoma after NBI compared with the number of patients with at least one adenoma after NBI and ICC. RESULTS: The 138 analyzable patients were all proven mismatch repair mutation carriers for LS (MLH1 = 33%, MSH2 = 47%, MSH6 = 15%, PMS2 = 4%, and EPCAM = 1%). The mean age (SD) was 40.5 (14.7) years, and 64 (46.4%) were men. The median withdrawal time for an NBI procedure was 8 minutes (interquartile range 6-11) compared with 13 minutes (interquartile range 8-17) for ICC. At least one adenoma was detected during the initial NBI pass in 28 patients (20.3%), and 42 patients (30.4%) had at least one adenoma detected after both NBI and ICC (difference, 10.1%; 95% confidence interval, -0.1%-20.3%); this represents an increase of 50.0% of the adenoma detection rate. ICC detected additional adenomas in 25 patients (18.1%). DISCUSSION: Colonoscopy combining NBI and ICC detects more adenomas than third-generation NBI alone in patients with LS, respectively, 30.4% vs 20.3% (difference, 10.1%; 95% confidence interval, -0.1 to 20.3), thus failing the noninferiority assumption of NBI compared with combined NBI and ICC. Although less time consuming, colonoscopy using the third-generation NBI cannot be recommended to replace ICC in patients with LS.
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Adenoma/diagnóstico , Colonografía Tomográfica Computarizada/métodos , Colonoscopía/métodos , Neoplasias Colorrectales Hereditarias sin Poliposis/diagnóstico , Colorantes/administración & dosificación , Imagen de Banda Estrecha/métodos , Adenoma/patología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Colon/diagnóstico por imagen , Colon/patología , Color , Neoplasias Colorrectales Hereditarias sin Poliposis/patología , Femenino , Humanos , Carmin de Índigo/administración & dosificación , Mucosa Intestinal/diagnóstico por imagen , Mucosa Intestinal/patología , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Factores de Tiempo , Adulto JovenRESUMEN
PURPOSE OF REVIEW: Benign small bowel polyps or mass are clinically poorly distinguishable from malignant small bowel masses, and the diagnostic conditions are almost the same. The important point for clinicians is first to take advantage of the different available diagnostic tools to optimize the diagnostic algorithm of a small bowel polyp or mass. Next, according to the clinical situation, associated disease or sporadic situation, the difficulty is to adapt the treatment decision to the patient situation. RECENT FINDINGS: The last 20 years have been marked by the development of major diagnostic tools for small bowel diseases (capsule endoscopy, cross-sectional imaging with enteroclysis and balloon-assisted enteroscopy) and by the major decrease of intra-operative enteroscopy as a diagnostic mean. SUMMARY: On the basis of considerable development of capsule endoscopy and the improvement of cross-sectional small bowel imagining, small bowel polyps represent now a frequent clinical situation for gastroenterologists.