Gastroenterology and Hepatology From Bed to Bench最新文献

{"title":"Neutrophil-to-lymphocyte ratio as an index of treatment response to trans-arterial chemoembolization in hepatocellular carcinoma.","authors":"Neda Shayegan, Niloofar Ayoobi, Esmaeil Mohammadi, Hajir Saberi, Faeze Salahshour, Forough Alborzi, Fateme Ziamanesh, Nahid Sadighi, Mohammad Taher","doi":"10.22037/ghfbb.v17i3.2925","DOIUrl":"10.22037/ghfbb.v17i3.2925","url":null,"abstract":"<p><strong>Aim: </strong>We evaluated the response to Trans-arterial chemoembolization (TACE) in hepatocellular carcinoma (HCC) patients according to modified Response Evaluation Criteria in Solid Tumors (mRECIST) criteria. We determined the prognostic value of the neutrophil-to-lymphocyte ratio (NLR).</p><p><strong>Background: </strong>TACE is the most commonly used method to treat patients with large, unresectable tumors or as bridge therapy in patients with HCC before liver transplantation.</p><p><strong>Methods: </strong>In this cross-sectional study, patients with a diagnosis of HCC who were referred for TACE were studied. The response rate to TACE treatment was assessed based on dynamic MRI 28 days after treatment according to mRECIST criteria. The NLR value was calculated, and its prognostic value was evaluated to predict the response to treatment.</p><p><strong>Results: </strong>Forty patients with HCC who underwent TACE were included. The response to TACE treatment included a complete response (CR) in 6 patients (15%), partial response (PR) in 16 patients (40%), and stable disease (SD) in 18 patients (45%). No progressive disease (PD) was found. Responders (CR and PR) were 22 patients (55%). The mean NLR after treatment in the non-responders was significantly higher than in the responders (4.2 vs. 2.4, P-value = 0.026). NLR values greater than 2.6 after treatment had a sensitivity of 70.6% and a specificity of 77.3% in diagnosing non-responders, with an Area Under the Curve (AUC) of 0.73 [95% confidence interval 0.58-0.89], P-value = 0.011.</p><p><strong>Conclusion: </strong>Non-responders observed higher levels of NLR after treatment than responders. As a moderate prognostic factor, an NLR level of more than 2.6 after treatment could discriminate against non-responders.</p>","PeriodicalId":12636,"journal":{"name":"Gastroenterology and Hepatology From Bed to Bench","volume":"17 3","pages":"253-259"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11413382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142284284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A rare and challenging case of extrahepatic costal metastases from an unknown primary hepatocellular carcinoma.","authors":"Christophe-Karl Souaid, Olivier Marty, Cynthia Medlij","doi":"10.22037/ghfbb.v17i1.2812","DOIUrl":"10.22037/ghfbb.v17i1.2812","url":null,"abstract":"<p><p>Hepatocellular carcinoma (HCC) typically presents with a primary hepatic mass. Nevertheless, on rare occasions, the initial presentation can be exclusively related to extrahepatic metastases and the most common sites of metastases are the lungs, lymph nodes, bones, and adrenal glands. While, bone metastases are generally accompanied by multiple metastatic spreads elsewhere in the body or previously diagnosed HCC, cases of solitary bone metastases with no liver lesion at imaging have been reported. Indeed, two rare entities of HCC have been reported in the literature which are the ectopic hepatocellular carcinoma and the infiltrative type of hepatocellular carcinoma with a very challenging radiologic diagnosis and poor prognosis. In this article, we present a case of extrahepatic costal metastases of hepatocellular carcinoma, which was diagnosed through a bone biopsy, with no focal lesion on liver imaging including ultrasound, multiphase MRI, and CT scan except for the presence of a portal vein thrombosis. It is important to consider the possibility of HCC metastases when evaluating rapidly growing extrahepatic lesions in patients with chronic liver disease and to consider the tumor characteristics and imaging findings as well as limitations to make accurate and timely diagnosis leading to improved patient management. Our patient had probably an infiltrating HCC because of two prominent factors: the presence of portal vein thrombosis and a markedly elevated alpha-fetoprotein (AFP). A liver biopsy was crucial in order to confirm the diagnosis but unfortunately it could not be performed because of the unexpected death of the patient due to hemorrhagic shock. It is also worth noting in this case, that the elevated level of AFP raised the suspicion on an underlying HCC and contributed to more elaborate diagnostic tests.</p>","PeriodicalId":12636,"journal":{"name":"Gastroenterology and Hepatology From Bed to Bench","volume":"17 1","pages":"93-99"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11080690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140913695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of sarcopenia on clinical outcomes in pediatric chronic liver disease post-liver transplantation: prevalence and implications.","authors":"Sarina Pourjafar, Nasrin Motazedian, Alireza Shamsaeefar, Seyed Ali Moosavi, Amirali Mashhadiagha, Mahboobeh Sheikhi, Anita Ashari, Alireza Rasekhi, Seyed Mohsen Dehghani, Kourosh Kazemi, Hamed Nikoupour, Maryam Ataollahi, Negar Azarpira, Marjan Faghih, Saman Nikeghbalian, Seyed Ali Malekhosseini","doi":"10.22037/ghfbb.v17i2.2908","DOIUrl":"10.22037/ghfbb.v17i2.2908","url":null,"abstract":"<p><strong>Aim: </strong>The purpose of this retrospective single-center study was to determine the frequency of sarcopenia and its association with mortality and other morbidities in children with chronic liver disease who had undergone liver transplantation.</p><p><strong>Background: </strong>Sarcopenia, a muscle-wasting syndrome, is common in patients with advanced liver disease and is associated with increased morbidity and mortality. While sarcopenia in adults has been extensively studied, there is little information in this regard about children and adolescents with chronic liver diseases.</p><p><strong>Methods: </strong>The study included 108 children and adolescents who had undergone liver transplantation. Sarcopenia was measured using skeletal muscle index at the third lumbar vertebral level and assessed using abdominal computed tomography imaging.</p><p><strong>Results: </strong>The frequency of sarcopenia in the studied population was found to be 45.7%. Patients with sarcopenia were more likely to be male (P<0.0001), older (P<0.0001), and had lower height-for-age z-scores (P=0.012). Genetic/metabolic diseases were the most common underlying cause of sarcopenia in children. Except for a higher rate of transplant rejection in the sarcopenia group (P=0.035), there was no significant difference in mortality rates (P=0.688) or post-LT complications between the two groups. One year after LT, computed tomography-derived body composition parameters revealed no significant differences between children who survived and those who did not.</p><p><strong>Conclusion: </strong>Our findings indicated a high frequency of sarcopenia in children with chronic liver disease, implying that more research is needed to better understand its impact on clinical outcomes in this population.</p>","PeriodicalId":12636,"journal":{"name":"Gastroenterology and Hepatology From Bed to Bench","volume":"17 2","pages":"171-179"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11234492/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparing the effectiveness of online individualized transdiagnostic treatment with acceptance and commitment therapy on medication adherence, gastrointestinal symptoms and perceived stress of patients with irritable bowel syndrome.","authors":"Homa Shahkaram, Amir Sadeghi, Abbas Masjedi Arani, Maryam Bakhtiari, Amir Sam Kianimoghadam","doi":"10.22037/ghfbb.v17i3.2920","DOIUrl":"10.22037/ghfbb.v17i3.2920","url":null,"abstract":"<p><strong>Aim: </strong>This study aimed to investigate whether transdiagnostic treatment as well as acceptance and commitment therapy (ACT) could improve treatment adherence and alleviate gastrointestinal symptoms plus perceived stress in patients suffering from irritable bowel syndrome.</p><p><strong>Background: </strong>Research has shown that people with chronic diseases often have negative attitudes toward medications, especially when they also have psychiatric disorders. This, along with the complex dosing requirements and inadequate knowledge about medication adherence among irritable bowel syndrome patients, can affect the treatment efficacy.</p><p><strong>Methods: </strong>A randomized clinical trial was conducted using a pre-test-post-test design. The statistical population included patients with irritable bowel syndrome referring to Taleghani Hospital in Tehran between winter 2021 and spring 2022. Convenience sampling was used to select 30 individuals, with 15 people assigned to each group. Two types of psychotherapy were provided online and individually to the participants. The desired treatments were given to the transdiagnostic treatment and ACT groups in eight weekly sessions of 45-60 minutes.</p><p><strong>Results: </strong>There was no significant difference between the transdiagnostic treatment pre-test and ACT regarding perceived stress, medication adherence, and gastrointestinal symptoms (P>0.05). There was no significant difference either between the transdiagnostic treatment and ACT post-test. However, there was a significant difference between the pre-test and post-test phases of ACT regarding adherence, gastrointestinal symptoms, plus perceived stress (P<0.05) and transdiagnostic treatment regarding gastrointestinal symptoms (P<0.05).</p><p><strong>Conclusion: </strong>Specialists may use transdiagnostic treatment and ACT as effective psychological treatments to alleviate gastrointestinal symptoms and perceived stress, thereby increasing treatment adherence in patients with irritable bowel syndrome.</p>","PeriodicalId":12636,"journal":{"name":"Gastroenterology and Hepatology From Bed to Bench","volume":"17 3","pages":"288-296"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11413384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142284251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Introducing critical proteins related to liver ischemia/reperfusion injury.","authors":"Babak Arjmand, Mahmood Khodadoost, Somayeh Jahani Sherafat, Mostafa Rezaei Tavirani, Nayebali Ahmadi, Sina Rezaei Tavirani","doi":"10.22037/ghfbb.v17i1.2555","DOIUrl":"10.22037/ghfbb.v17i1.2555","url":null,"abstract":"<p><strong>Aim: </strong>The current study aimed to introduce the key proteins involved in liver ischemia/reperfusion (I/R) injury through protein-protein interaction (PPI) analysis.</p><p><strong>Background: </strong>Liver transplantation (LT) is a well-known treatment for liver diseases that threaten patients with mortality. LT is a complex operation, and several risks, including liver I/R injury, affect its success. Improving LT requires detection of its molecular mechanism. Experiments have revealed that high throughput methods such as proteomics in combination with bioinformatics are useful tools for analyzing the molecular mechanism of disease.</p><p><strong>Methods: </strong>The differentially expressed proteins (DEPs) involved in liver I/R injury were extracted from the literature. The queried DEPs plus the first 100 neighbors were included in a network through STRING database using Cytoscape software. Degree, betweenness centrality, closeness centrality, and stress were considered to determine the central nodes. The queried DEPs were assessed by action map analysis using the CluePedia application of Cytoscape software. The key proteins were identified by comparing network analysis and action map evaluation results.</p><p><strong>Results: </strong>Six proteins, namely ALB, INS, GAPDH, CAT, IL6, and TNF, among the added first neighbors were determined as the central first neighbors. MPO, CRP, MMP9, and HMOX1 were selected as central DEPs among the queried proteins. Action map analysis confirmed the PPI findings. The final evaluation revealed that MMP9 in combination with CRP and HMOX1 plays a critical role in liver I/R injury.</p><p><strong>Conclusion: </strong>The significant role of MMP9 in liver I/R injury was detected in this study. Two central proteins (CRP and HMOX1) were shown to have a regulatory effect on MMP9; CRP activated MMP9, while HMXO1 downregulated it.</p>","PeriodicalId":12636,"journal":{"name":"Gastroenterology and Hepatology From Bed to Bench","volume":"17 1","pages":"87-92"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11080694/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140911924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The anti-inflammatory effects of antidepressants on colitis.","authors":"Hajar Khazraei, Seyedeh Azra Shamsdin","doi":"10.22037/ghfbb.v17i1.2850","DOIUrl":"10.22037/ghfbb.v17i1.2850","url":null,"abstract":"<p><strong>Aim: </strong>Clomipramine (tricyclic antidepressant), Risperidone (a non-typical antidepressant), and Escitalopram (selective serotonin reuptake inhibitor antidepressant) might be good candidates for investigating the anti-colitis activity.</p><p><strong>Background: </strong>The incidence of depression with ulcerative colitis in patients has led to the use of antidepressants in their treatment. In addition to the antidepressant effect of these drugs, anti-inflammatory effects have also been reported.</p><p><strong>Methods: </strong>In this study, 36 rats were used 2 ml of 3% acetic acid solution rectally to show the colitis. Then, Clomipramine (25 mg/kg), Escitalopram (10 mg/kg), Prednisolone (5 mg/kg), Risperidone (2 mg/kg), and normal saline as the control was administered orally for six days. The levels of Tumor Necrosis factor-alpha (TNF-α), Interleukin-6 (IL-6), and myeloperoxidase (MPO) were measured by Enzyme-linked immune sorbent assay (ELISA), and changes in the tissue pathology were investigated.</p><p><strong>Results: </strong>IL-6 level was significantly reduced after the administration of clomipramine and Prednisolone (p=0.025). Risperidone has significantly reduced MPO activity in colonic tissue (P=0.006). We did find no statistical decrease in MPO activity and TNF-α and IL-6 levels after consumption of Escitalopram (p>0.05).</p><p><strong>Conclusion: </strong>Clomipramine showed the best anti-inflammatory effect compared to Escitalopram and Risperidone. Therefore, clomipramine showed the best relieving effect on inflammation of ulcerative colitis in rats.</p>","PeriodicalId":12636,"journal":{"name":"Gastroenterology and Hepatology From Bed to Bench","volume":"17 1","pages":"28-36"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11080688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140911947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of small intestinal bacterial overgrowth in patients with gastroparesis: a systematic review and meta-analysis.","authors":"Renato Beas,&nbsp;Adrian Riva-Moscoso,&nbsp;Eleazar Montalvan-Sanchez,&nbsp;Fortunato S Príncipe-Meneses,&nbsp;Rawan Aljaras,&nbsp;Mirian Ramirez-Rojas,&nbsp;Diego Izquierdo-Veraza,&nbsp;Gerardo Calderon","doi":"10.22037/ghfbb.v16i1.2652","DOIUrl":"https://doi.org/10.22037/ghfbb.v16i1.2652","url":null,"abstract":"<p><strong>Aim: </strong>We performed a systematic review and meta-analysis to identify the prevalence of small intestinal bacterial overgrowth (SIBO) in patients with gastroparesis.</p><p><strong>Background: </strong>Several studies have suggested an association between SIBO and gastroparesis, which is characterized by delayed gastric emptying in the absence of mechanical obstruction.</p><p><strong>Methods: </strong>A comprehensive search was performed using MEDLINE, EMBASE, Scopus and Cochrane Central Register of Controlled Trials (CENTRAL) through January, 2022 for randomized controlled trials and observational studies reporting the prevalence of SIBO in gastroparesis. Pooled prevalence was estimated using a random effects model. Heterogeneity was assessed by using the inconsistency index (I2).</p><p><strong>Results: </strong>Among the 976 articles identified, 43 studies were selected for full text review. Six studies, with 385 patients, were deemed eligible for inclusion, with a perfect agreement between investigators (kappa=1.0). Overall, 379 patients were diagnosed with gastroparesis by gastric emptying scintigraphy and six were diagnosed with a wireless motility capsule. The pooled prevalence of SIBO was 41% (95% confidence interval 0.23-0.58). SIBO was diagnosed using jejunal aspirate cultures (N=15, 8.4%), lactulose breath test (N=80, 44.7%), glucose breath test (N=30, 16.8%), D-xylose breath test (N=52, 29.1%), and hydrogen breath test (N=2, 1.1%). Heterogeneity was significant and noted to be high at 91%. Only one study reported SIBO diagnosis in controls, therefore no pooled odds ratio was calculated.</p><p><strong>Conclusion: </strong>SIBO was present in almost half of the patients with gastroparesis. Future studies should examine and identify the association between SIBO and gastroparesis.</p>","PeriodicalId":12636,"journal":{"name":"Gastroenterology and Hepatology From Bed to Bench","volume":"16 1","pages":"438-447"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/96/b0/GHFBB-16-438.PMC10105503.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9380020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Collagenous colitis associated with novel sprue-like intestinal diseases.","authors":"Hugh J Freeman","doi":"10.22037/ghfbb.v16i2.2698","DOIUrl":"https://doi.org/10.22037/ghfbb.v16i2.2698","url":null,"abstract":"<p><p>Almost a half-century ago, an unusual and distinct form of colitis was first recognized, collagenous colitis, characterized by sub-epithelial trichrome-positive deposits having the ultrastructural features of collagen. Later, other reports documented more extensive collagenous dis-ease in these patients, sometimes in the stomach and small bowel, a close linkage with other forms of microscopic colitis and its association with celiac and other immune-mediated diseases. Moreover, emerging genetic methods permitted large studies of collagenous colitis to complement these intriguing clinical and pathological studies. Finally, recent and related studies have further demonstrated these immune-based forms of colitis, with new sprue-like intestinal diseases caused by novel medications, recently detected viral infections and vaccinations.</p>","PeriodicalId":12636,"journal":{"name":"Gastroenterology and Hepatology From Bed to Bench","volume":"16 2","pages":"145-150"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/29/0e/GHFBB-16-145.PMC10404830.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10575708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Does chatGPT (or any other artificial intelligence language tool) deserve to be included in authorship list?","authors":"Mohamad Amin Pourhoseingholi,&nbsp;Mohammad Reza Hatamnejad,&nbsp;Ali Solhpour","doi":"10.22037/ghfbb.v16i1.2747","DOIUrl":"https://doi.org/10.22037/ghfbb.v16i1.2747","url":null,"abstract":"Mohamad Amin Pourhoseingholi, Mohammad Reza Hatamnejad, Ali Solhpour 1 Gastroenterology and Liver Diseases Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran 2 Basic and Molecular Epidemiology of Gastrointestinal Disorders Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran 3 Department of Anaesthesiology, College of Medicine, University of Florida, Gainesville, FL, USA","PeriodicalId":12636,"journal":{"name":"Gastroenterology and Hepatology From Bed to Bench","volume":"16 1","pages":"435-437"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d2/3b/GHFBB-16-435.PMC10105502.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9693652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tufting enteropathy: a rare anatomical cause of small bowel diarrhoea in infants with mild or no villous abnormality.","authors":"Prasenjit Das,&nbsp;Rohan Malik,&nbsp;Sanjeevani Kaul,&nbsp;Govind K Makharia","doi":"10.22037/ghfbb.v16i1.2731","DOIUrl":"https://doi.org/10.22037/ghfbb.v16i1.2731","url":null,"abstract":"<p><p>The causes of intractable diarrhoea in infancy are varied, and can be classified into enteropathic and non-enteropathic groups. Congenital tufting enteropathy (CTE) is a rare cause of enteropathic form of intractable diarrhoea in infants requiring nutritional supplementation. We herein report a case of CTE in a one-year-old female child who presented with recurrent abdominal distension, frequent watery diarrhoea and marked stunted growth soon after birth. A systematic clinical, laboratory and pathological evaluation brought out the etiology, followed by genotypic confirmation. Histological examination revealed mild villous abnormality with presence of epithelial tufts both in the villous and crypt surface, in the duodenum and rectal biopsies supported by complete loss of MOC31 staining. Deep sequencing revealed homozygous 3' splice mutation at intron 5 of the EPCAM gene (c.556-14A>G). She was given TPN support and discharged with weight gain under home-based parenteral nutrition supplement. This case brings out the need for a multidisciplinary team approach to reveal underlying the cause of infantile intractable diarrhoea and report a favorable outcome with nutritional supplementation.</p>","PeriodicalId":12636,"journal":{"name":"Gastroenterology and Hepatology From Bed to Bench","volume":"16 2","pages":"225-229"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8c/70/GHFBB-16-225.PMC10404837.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10263647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}