Pub Date : 2025-06-17eCollection Date: 2025-08-01DOI: 10.1002/jpr3.70045
Hilary K Michel, Jennifer L Dotson, Jennie G David, Amy Donegan, Ashley Kiel, Ross M Maltz, Hannah McKillop, Melanie Oates, Brendan Boyle
Objectives: In young adults with inflammatory bowel disease (IBD), the time following transfer to adult care is high-risk for adverse outcomes. We used quality improvement (QI) methods to standardize care, decrease variation, and improve preparation of young adults during the transition/transfer process.
Methods: We created the IBD Transition Care Index (TCI), a list of 10 variables whose completion was felt to represent a more comprehensive transition/transfer process. Variables were organized into three domains: Disease Control/Physical Health, Psychosocial Well-being, and Transition/Transfer Preparation. We educated patients, caregivers, and providers on the value of completing the TCI to deliver complete, multidisciplinary preparation. We recorded variable completion in a database, reviewed results regularly with providers, and compared rates of variable completion between IBD-focused and general gastroenterology (GI) physicians.
Results: Three hundred twenty-two patients transferred to adult care during the project period (211 pre-intervention and 121 post-intervention). In the overall cohort, the mean percentage of TCI variables completed increased from a baseline of 62%-71% in the post-intervention period, with a significant increase in the rate of multidisciplinary IBD annual visit (IBD AV) attendance (51% vs. 62%, p = 0.03). Patients cared for by general GI physicians had significantly increased rates of both overall TCI variable completion (54% vs. 72%, p = 0.02) and IBD AV attendance (34% vs. 57%, p = 0.02) in the pre- versus post-intervention period.
Conclusions: Care Indexes such as the TCI can be used to reduce variability and standardize complex clinical processes like transition/transfer for young adults with IBD, with the goal of improving patient outcomes.
{"title":"The Transition Care Index: Standardizing comprehensive transition and transfer for young adults with inflammatory bowel disease.","authors":"Hilary K Michel, Jennifer L Dotson, Jennie G David, Amy Donegan, Ashley Kiel, Ross M Maltz, Hannah McKillop, Melanie Oates, Brendan Boyle","doi":"10.1002/jpr3.70045","DOIUrl":"10.1002/jpr3.70045","url":null,"abstract":"<p><strong>Objectives: </strong>In young adults with inflammatory bowel disease (IBD), the time following transfer to adult care is high-risk for adverse outcomes. We used quality improvement (QI) methods to standardize care, decrease variation, and improve preparation of young adults during the transition/transfer process.</p><p><strong>Methods: </strong>We created the IBD Transition Care Index (TCI), a list of 10 variables whose completion was felt to represent a more comprehensive transition/transfer process. Variables were organized into three domains: Disease Control/Physical Health, Psychosocial Well-being, and Transition/Transfer Preparation. We educated patients, caregivers, and providers on the value of completing the TCI to deliver complete, multidisciplinary preparation. We recorded variable completion in a database, reviewed results regularly with providers, and compared rates of variable completion between IBD-focused and general gastroenterology (GI) physicians.</p><p><strong>Results: </strong>Three hundred twenty-two patients transferred to adult care during the project period (211 pre-intervention and 121 post-intervention). In the overall cohort, the mean percentage of TCI variables completed increased from a baseline of 62%-71% in the post-intervention period, with a significant increase in the rate of multidisciplinary IBD annual visit (IBD AV) attendance (51% vs. 62%, <i>p</i> = 0.03). Patients cared for by general GI physicians had significantly increased rates of both overall TCI variable completion (54% vs. 72%, <i>p</i> = 0.02) and IBD AV attendance (34% vs. 57%, <i>p</i> = 0.02) in the pre- versus post-intervention period.</p><p><strong>Conclusions: </strong>Care Indexes such as the TCI can be used to reduce variability and standardize complex clinical processes like transition/transfer for young adults with IBD, with the goal of improving patient outcomes.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 3","pages":"227-235"},"PeriodicalIF":0.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12350045/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144857332","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}
Pub Date : 2025-06-17eCollection Date: 2025-08-01DOI: 10.1002/jpr3.70048
Mario Brusco, Sara Trivellini, Rita Cozzali, Andrea Brusaferro, Olivia Morelli, Rachele Simonte, Giuseppe Di Cara, Francesco Valitutti
Objectives: To evaluate carbon dioxide (CO2) footprint of celiac disease (CeD) diagnostic guidelines and follow-up practices for children/adolescents.
Methods: Two-hundred and thirty-six patients diagnosed and followed up for CeD in Umbria region during 2020-2023 were included in this retrospective study. Patients were divided in two groups: Group 1 included patients diagnosed by duodenal biopsies (total: 43), while Group 2 included no-biopsy patients (total: 193). Transport emissions of CO2 per kilometer traveled by a diesel car was estimated as 171 g/km. CO2 cost was estimated as 22 kg for each anesthesia and as 5.4 kg for each upper GI endoscopy.
Results: The median CO2 cost/patient/year in Group 1 was 397.9 kg, while the median CO2 cost/patient/year in Group 2 was 57.2 kg (p < 0.001). As regards the follow-up of these children, we estimated a median CO2 amount of 39.3 kg produced per year by car emission and there was no difference between the two groups (Group 1 40.5 kg vs. Group 2 38.1 kg; p:ns).
Conclusions: The no-biopsy approach for the CeD diagnosis strongly decreases the CO2 emissions. Whether implementing telemedicine, handing over to primary care or reducing outpatient consultations for follow-up will be feasible and environmentally more sustainable should be evaluated.
目的:评估儿童/青少年乳糜泻(CeD)诊断指南和随访实践的二氧化碳(CO2)足迹。方法:对2020-2023年翁布里亚地区确诊并随访的286例CeD患者进行回顾性研究。患者分为两组:1组为经十二指肠活检诊断的患者(共43例),2组为未行十二指肠活检诊断的患者(共193例)。据估计,柴油车每公里的二氧化碳排放量为171克/公里。每次麻醉的二氧化碳成本估计为22公斤,每次上消化道内镜检查的二氧化碳成本估计为5.4公斤。结果:第1组的CO2成本中位数/患者/年为397.9 kg,第2组的CO2成本中位数/患者/年为57.2 kg (p < 2),汽车排放的CO2排放量为39.3 kg /年,两组之间无差异(第1组为40.5 kg,第2组为38.1 kg;p: ns)。结论:无活检方法诊断CeD可显著降低CO2排放。实施远程医疗、移交给初级保健或减少门诊随访是否可行,以及在环境上是否更具可持续性,都应进行评估。
{"title":"The environmental impact of pediatric celiac disease diagnosis and follow-up.","authors":"Mario Brusco, Sara Trivellini, Rita Cozzali, Andrea Brusaferro, Olivia Morelli, Rachele Simonte, Giuseppe Di Cara, Francesco Valitutti","doi":"10.1002/jpr3.70048","DOIUrl":"10.1002/jpr3.70048","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate carbon dioxide (CO<sub>2</sub>) footprint of celiac disease (CeD) diagnostic guidelines and follow-up practices for children/adolescents.</p><p><strong>Methods: </strong>Two-hundred and thirty-six patients diagnosed and followed up for CeD in Umbria region during 2020-2023 were included in this retrospective study. Patients were divided in two groups: Group 1 included patients diagnosed by duodenal biopsies (total: 43), while Group 2 included no-biopsy patients (total: 193). Transport emissions of CO<sub>2</sub> per kilometer traveled by a diesel car was estimated as 171 g/km. CO<sub>2</sub> cost was estimated as 22 kg for each anesthesia and as 5.4 kg for each upper GI endoscopy.</p><p><strong>Results: </strong>The median CO<sub>2</sub> cost/patient/year in Group 1 was 397.9 kg, while the median CO<sub>2</sub> cost/patient/year in Group 2 was 57.2 kg (<i>p</i> < 0.001). As regards the follow-up of these children, we estimated a median CO<sub>2</sub> amount of 39.3 kg produced per year by car emission and there was no difference between the two groups (Group 1 40.5 kg vs. Group 2 38.1 kg; <i>p</i>:ns).</p><p><strong>Conclusions: </strong>The no-biopsy approach for the CeD diagnosis strongly decreases the CO<sub>2</sub> emissions. Whether implementing telemedicine, handing over to primary care or reducing outpatient consultations for follow-up will be feasible and environmentally more sustainable should be evaluated.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 3","pages":"236-240"},"PeriodicalIF":0.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12350031/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144857331","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}
Pub Date : 2025-06-17eCollection Date: 2025-08-01DOI: 10.1002/jpr3.70031
Julia Primo, George Tankosich, Kristen Critelli, Elizabeth Sinclair
Objectives: Treatment adherence in pediatric patients with eosinophilic esophagitis (EoE) is suboptimal. This study aimed to identify barriers to adherence, comparing experiences between patients on elimination diets and those prescribed medication.
Methods: This observational study utilized a questionnaire incorporating elements from a previously validated medication adherence tool, in addition to studies assessing dietary and medication adherence in pediatric gastrointestinal disorders.
Results: A total of 125 patients were enrolled. Among them, 94 patients were prescribed medication, and 58 patients were prescribed dietary elimination, with 27 subjects receiving both medication and dietary elimination. High rates of nonadherence were observed in both groups. In the pharmacological group, the most common barrier was forgetting to take medication, particularly among those prescribed swallowed topical corticosteroids. In the dietary therapy group, limited food options and challenges when away from home were key barriers. Furthermore, older children, those unsupervised by parents, and those living in single or separate households exhibited lower adherence to dietary therapy.
Conclusion: Shared decision-making between healthcare providers, patients, and their families is critical for optimizing treatment adherence in pediatric EoE. Our findings offer new insights into the barriers to dietary and pharmacologic treatment in pediatric EoE, and understanding and addressing these barriers may enhance long-term treatment adherence and improve quality of life for this population.
{"title":"Barriers to treatment adherence in pediatric eosinophilic esophagitis.","authors":"Julia Primo, George Tankosich, Kristen Critelli, Elizabeth Sinclair","doi":"10.1002/jpr3.70031","DOIUrl":"10.1002/jpr3.70031","url":null,"abstract":"<p><strong>Objectives: </strong>Treatment adherence in pediatric patients with eosinophilic esophagitis (EoE) is suboptimal. This study aimed to identify barriers to adherence, comparing experiences between patients on elimination diets and those prescribed medication.</p><p><strong>Methods: </strong>This observational study utilized a questionnaire incorporating elements from a previously validated medication adherence tool, in addition to studies assessing dietary and medication adherence in pediatric gastrointestinal disorders.</p><p><strong>Results: </strong>A total of 125 patients were enrolled. Among them, 94 patients were prescribed medication, and 58 patients were prescribed dietary elimination, with 27 subjects receiving both medication and dietary elimination. High rates of nonadherence were observed in both groups. In the pharmacological group, the most common barrier was forgetting to take medication, particularly among those prescribed swallowed topical corticosteroids. In the dietary therapy group, limited food options and challenges when away from home were key barriers. Furthermore, older children, those unsupervised by parents, and those living in single or separate households exhibited lower adherence to dietary therapy.</p><p><strong>Conclusion: </strong>Shared decision-making between healthcare providers, patients, and their families is critical for optimizing treatment adherence in pediatric EoE. Our findings offer new insights into the barriers to dietary and pharmacologic treatment in pediatric EoE, and understanding and addressing these barriers may enhance long-term treatment adherence and improve quality of life for this population.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 3","pages":"241-247"},"PeriodicalIF":0.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12350034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144857341","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}
Pub Date : 2025-06-15eCollection Date: 2025-11-01DOI: 10.1002/jpr3.70042
Kathryn M Stephenson, Raj P Kapur, Jeffrey R Avansino, Lusine Ambartsumyan
Gastric heterotropia (GHT) may present from the oropharynx to the anus and is commonly associated with Meckel's diverticula. Here, we describe a rare case of anorectal GHT localized to the distal anal canal. A 14-month-old male patient presented for evaluation of rectal bleeding, severe constipation, and abdominal distention with poor response to laxative medications. Physical examination revealed anal stenosis, and the patient underwent rectal examination under anesthesia with anal dilation and a full-thickness rectal biopsy, which revealed GHT. Cutback anoplasty relieved the stenosis, and due to the risk of dysplasia, surgical resection and pull-through were discussed. The care team and family elected medical management with chronic acid suppression given the distal location of the GHT. All pediatric case reports of anorectal GHTs to date are reviewed. This is one of few associated with anal stenosis, and the second to be managed exclusively nonsurgically.
{"title":"Anorectal gastric heterotopia as a rare cause of constipation: Case report and review of pediatric literature.","authors":"Kathryn M Stephenson, Raj P Kapur, Jeffrey R Avansino, Lusine Ambartsumyan","doi":"10.1002/jpr3.70042","DOIUrl":"10.1002/jpr3.70042","url":null,"abstract":"<p><p>Gastric heterotropia (GHT) may present from the oropharynx to the anus and is commonly associated with Meckel's diverticula. Here, we describe a rare case of anorectal GHT localized to the distal anal canal. A 14-month-old male patient presented for evaluation of rectal bleeding, severe constipation, and abdominal distention with poor response to laxative medications. Physical examination revealed anal stenosis, and the patient underwent rectal examination under anesthesia with anal dilation and a full-thickness rectal biopsy, which revealed GHT. Cutback anoplasty relieved the stenosis, and due to the risk of dysplasia, surgical resection and pull-through were discussed. The care team and family elected medical management with chronic acid suppression given the distal location of the GHT. All pediatric case reports of anorectal GHTs to date are reviewed. This is one of few associated with anal stenosis, and the second to be managed exclusively nonsurgically.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 4","pages":"407-411"},"PeriodicalIF":0.0,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12611620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145544614","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}
Pub Date : 2025-06-11eCollection Date: 2025-08-01DOI: 10.1002/jpr3.70047
Rose Lee, Yonna Oparaugo, Molly Mackensen, Katherine Vaidy
Objectives: Sedation-free transnasal endoscopy (TNE) is a safe, feasible, and well tolerated procedure performed in children to evaluate the upper gastrointestinal tract. The procedural technique of TNE in children is adopted from procedural standards in adults, typically using the upright seated position. The left lateral decubitus (LLD) position may be preferred for optimal safety and visualization during TNE. This pilot study explored the feasibility and tolerance of TNE in pediatric patients using the LLD position.
Methods: This was a retrospective review of 13 children who underwent sedation-free TNE in the LLD position from October 2024 to February 2025 in an outpatient gastroenterology procedure suite. Procedure time, patient tolerance (TNEase score), adverse events, and patient demographics were collected and analyzed.
Results: A total of 13 TNE procedures were successfully completed in the LLD position. The mean (standard deviation (SD)) age of the cohort was 12 years (2.7); 38% were female. The mean (SD) procedural time for esophagoscopy was 5.1 min (1.6). All patients had TNEase score of 2 or lower. Ten (77%) of patients had a TNEase score of 1. Two patients with history of anxiety and orthostasis experienced syncope in the upright seated position but subsequently completed the TNE in the LLD position without adverse events.
Conclusions: LLD position for sedation-free TNE is feasible and well tolerated in children. Findings should prompt further, prospective investigations of the benefits of LLD versus upright seated position, particularly in children with orthostatic intolerance.
目的:无镇静经鼻内窥镜检查(TNE)是一种安全、可行、耐受性良好的儿童上消化道检查方法。儿童TNE的手术技术采用成人的手术标准,通常采用直立坐姿。在TNE过程中,左侧卧位(LLD)可能是最佳的安全和可视化位置。这项初步研究探讨了小儿患者使用LLD体位进行TNE的可行性和耐受性。方法:这是一项回顾性研究,从2024年10月到2025年2月,13名儿童在门诊胃肠外科手术组接受了LLD位置的无镇静TNE。收集并分析手术时间、患者耐受性(TNEase评分)、不良事件和患者人口统计数据。结果:在LLD位置成功完成13例TNE手术。该队列的平均(标准差(SD))年龄为12岁(2.7岁);38%是女性。食管镜检查的平均(SD)时间为5.1 min (1.6 min)。所有患者TNEase评分均在2分及以下。10例(77%)患者TNEase评分为1。两名有焦虑和直立病史的患者在直立坐姿时出现晕厥,但随后在LLD位完成了TNE,无不良事件。结论:儿童无镇静TNE的LLD位是可行且耐受性良好的。研究结果应促使进一步的前瞻性研究LLD与直立坐姿的益处,特别是对于直立不耐受的儿童。
{"title":"Left lateral decubitus position during sedation-free transnasal endoscopy: A pilot study.","authors":"Rose Lee, Yonna Oparaugo, Molly Mackensen, Katherine Vaidy","doi":"10.1002/jpr3.70047","DOIUrl":"10.1002/jpr3.70047","url":null,"abstract":"<p><strong>Objectives: </strong>Sedation-free transnasal endoscopy (TNE) is a safe, feasible, and well tolerated procedure performed in children to evaluate the upper gastrointestinal tract. The procedural technique of TNE in children is adopted from procedural standards in adults, typically using the upright seated position. The left lateral decubitus (LLD) position may be preferred for optimal safety and visualization during TNE. This pilot study explored the feasibility and tolerance of TNE in pediatric patients using the LLD position.</p><p><strong>Methods: </strong>This was a retrospective review of 13 children who underwent sedation-free TNE in the LLD position from October 2024 to February 2025 in an outpatient gastroenterology procedure suite. Procedure time, patient tolerance (TNEase score), adverse events, and patient demographics were collected and analyzed.</p><p><strong>Results: </strong>A total of 13 TNE procedures were successfully completed in the LLD position. The mean (standard deviation (SD)) age of the cohort was 12 years (2.7); 38% were female. The mean (SD) procedural time for esophagoscopy was 5.1 min (1.6). All patients had TNEase score of 2 or lower. Ten (77%) of patients had a TNEase score of 1. Two patients with history of anxiety and orthostasis experienced syncope in the upright seated position but subsequently completed the TNE in the LLD position without adverse events.</p><p><strong>Conclusions: </strong>LLD position for sedation-free TNE is feasible and well tolerated in children. Findings should prompt further, prospective investigations of the benefits of LLD versus upright seated position, particularly in children with orthostatic intolerance.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 3","pages":"215-218"},"PeriodicalIF":0.0,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12350039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144857327","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}
Pub Date : 2025-06-10eCollection Date: 2025-11-01DOI: 10.1002/jpr3.70041
David J Katibian, Laura E Bauman, Katayoon Shayan, D Brent Polk
Selective androgenic receptor modulators (SARMs) have similar properties to anabolic steroids but bind to androgen receptors in a tissue-specific manner. Studies have investigated the benefits of SARMs in promoting bone and muscle growth while limiting the adverse effects of androgenic stimulation of other organs. However, an increase in the reported cases of hepatotoxicity in adults secondary to SARMs found in bodybuilding supplements has raised concerns about their safety. We report the first known adolescent case of SARMs-associated liver injury with a primarily hepatocellular pattern of injury. Previous reports in adults had shown a primarily cholestatic pattern of injury. Our case highlights, the variations in the phenotypic and histologic patterns of injury based on the amount and type of SARMs. The purpose of this case report is to shed light on the potential spectrum of liver injury related to SARMs use and continue to raise awareness of the associated health risks.
{"title":"Drug-induced liver injury associated with selective androgen receptor modulators in an adolescent patient.","authors":"David J Katibian, Laura E Bauman, Katayoon Shayan, D Brent Polk","doi":"10.1002/jpr3.70041","DOIUrl":"10.1002/jpr3.70041","url":null,"abstract":"<p><p>Selective androgenic receptor modulators (SARMs) have similar properties to anabolic steroids but bind to androgen receptors in a tissue-specific manner. Studies have investigated the benefits of SARMs in promoting bone and muscle growth while limiting the adverse effects of androgenic stimulation of other organs. However, an increase in the reported cases of hepatotoxicity in adults secondary to SARMs found in bodybuilding supplements has raised concerns about their safety. We report the first known adolescent case of SARMs-associated liver injury with a primarily hepatocellular pattern of injury. Previous reports in adults had shown a primarily cholestatic pattern of injury. Our case highlights, the variations in the phenotypic and histologic patterns of injury based on the amount and type of SARMs. The purpose of this case report is to shed light on the potential spectrum of liver injury related to SARMs use and continue to raise awareness of the associated health risks.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 4","pages":"515-518"},"PeriodicalIF":0.0,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12611585/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145544825","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}
Pub Date : 2025-06-09eCollection Date: 2025-11-01DOI: 10.1002/jpr3.70044
Stephanie Bou-Anak, Muhammad Khan, Ashlie Rubrecht, Kevin Watson
In this report, we present a case of an atypical presentation with a solitary recalcitrant adenomatous colonic polyp, managed by endoscopic mucosal resection (EMR). The patient is a 17-year-old previously healthy male, who was evaluated by the gastroenterology clinic in the setting of abdominal pain, hematochezia and iron deficiency anemia. Patient was found to have a solitary rectosigmoid adenomatous polyp with low-grade dysplasia, and a normal upper endoscopy. The rectosigmoid polyp was difficult to completely resect via snare polypectomy and showed persistent regrowth, requiring EMR for complete resection. Of note, family history is extensive for malignancy, with patient's hereditary colorectal cancer genetic testing showing a heterozygous variant of unknown significance in one copy of his RNF43 gene. Follow-up endoscopic evaluation was unremarkable, with no polyp recurrence and negative pathology at the resected polyp site.
{"title":"Management of recalcitrant colorectal adenoma with endoscopic mucosal resection.","authors":"Stephanie Bou-Anak, Muhammad Khan, Ashlie Rubrecht, Kevin Watson","doi":"10.1002/jpr3.70044","DOIUrl":"10.1002/jpr3.70044","url":null,"abstract":"<p><p>In this report, we present a case of an atypical presentation with a solitary recalcitrant adenomatous colonic polyp, managed by endoscopic mucosal resection (EMR). The patient is a 17-year-old previously healthy male, who was evaluated by the gastroenterology clinic in the setting of abdominal pain, hematochezia and iron deficiency anemia. Patient was found to have a solitary rectosigmoid adenomatous polyp with low-grade dysplasia, and a normal upper endoscopy. The rectosigmoid polyp was difficult to completely resect via snare polypectomy and showed persistent regrowth, requiring EMR for complete resection. Of note, family history is extensive for malignancy, with patient's hereditary colorectal cancer genetic testing showing a heterozygous variant of unknown significance in one copy of his RNF43 gene. Follow-up endoscopic evaluation was unremarkable, with no polyp recurrence and negative pathology at the resected polyp site.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 4","pages":"404-406"},"PeriodicalIF":0.0,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12611592/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145544927","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}
Pub Date : 2025-06-06eCollection Date: 2025-11-01DOI: 10.1002/jpr3.70039
Christine Kaba, Kelsey Chatman, Nicole Hames, Jose E Velazquez Vega, Hillary Bashaw
Lynch syndrome (LS) is an autosomal dominant condition caused by a loss of function in the deoxyribonucleic acid mismatch repair system. This case report presents a 17-year-old male with abdominal pain, weight loss, and anemia who was diagnosed with LS-associated adenocarcinoma of the colon in the setting of a mutS homolog 6 genetic mutation, which was confirmed by genetic testing. This highlights an urgent need to reevaluate current pediatric screening guidelines for hereditary cancer syndromes to prevent delayed diagnosis and improve outcomes. Family history-taking, genetic screening, and aggressive surveillance practices should also be integrated into standard pediatric care protocols.
{"title":"A rare case of colonic adenocarcinoma in a pediatric patient.","authors":"Christine Kaba, Kelsey Chatman, Nicole Hames, Jose E Velazquez Vega, Hillary Bashaw","doi":"10.1002/jpr3.70039","DOIUrl":"10.1002/jpr3.70039","url":null,"abstract":"<p><p>Lynch syndrome (LS) is an autosomal dominant condition caused by a loss of function in the deoxyribonucleic acid mismatch repair system. This case report presents a 17-year-old male with abdominal pain, weight loss, and anemia who was diagnosed with LS-associated adenocarcinoma of the colon in the setting of a mutS homolog 6 genetic mutation, which was confirmed by genetic testing. This highlights an urgent need to reevaluate current pediatric screening guidelines for hereditary cancer syndromes to prevent delayed diagnosis and improve outcomes. Family history-taking, genetic screening, and aggressive surveillance practices should also be integrated into standard pediatric care protocols.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 4","pages":"400-403"},"PeriodicalIF":0.0,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12611601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145544542","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}
Pub Date : 2025-06-03eCollection Date: 2025-08-01DOI: 10.1002/jpr3.70029
María Camila Beltrán-Ramírez, Jose Fernando Vera-Chamorro, Ailim Margarita Carias-Dominguez
Esophageal atresia (EA), with or without tracheoesophageal fistula, is the most common congenital anomaly of the esophagus. Surgical correction is the primary treatment, however, up to 80% of patients experience anastomotic stenosis, with esophageal balloon dilation (EBD) being the first-line treatment. Unfortunately, some patients develop refractory anastomotic stenosis (RAS), defined by the presence of strictures after three EBD sessions. The endoscopic management of RAS remains controversial. Although EA itself is rare, the incidence of postoperative stricture is significant, contributing to high morbidity characterized by symptoms such as dysphagia, short stature, choking, drooling, among others. The first-line treatment for RAS is EBD, as current literature lacks clinical trials on alternative techniques. This case report highlights the successful management of refractory anastomotic stenosis in a Colombian infant using advanced endoscopic techniques.
{"title":"Endoscopic remodeling of esophageal stenosis refractory to traditional endoscopic treatment.","authors":"María Camila Beltrán-Ramírez, Jose Fernando Vera-Chamorro, Ailim Margarita Carias-Dominguez","doi":"10.1002/jpr3.70029","DOIUrl":"10.1002/jpr3.70029","url":null,"abstract":"<p><p>Esophageal atresia (EA), with or without tracheoesophageal fistula, is the most common congenital anomaly of the esophagus. Surgical correction is the primary treatment, however, up to 80% of patients experience anastomotic stenosis, with esophageal balloon dilation (EBD) being the first-line treatment. Unfortunately, some patients develop refractory anastomotic stenosis (RAS), defined by the presence of strictures after three EBD sessions. The endoscopic management of RAS remains controversial. Although EA itself is rare, the incidence of postoperative stricture is significant, contributing to high morbidity characterized by symptoms such as dysphagia, short stature, choking, drooling, among others. The first-line treatment for RAS is EBD, as current literature lacks clinical trials on alternative techniques. This case report highlights the successful management of refractory anastomotic stenosis in a Colombian infant using advanced endoscopic techniques.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 3","pages":"292-295"},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12350046/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144857345","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}
Pub Date : 2025-06-02eCollection Date: 2025-08-01DOI: 10.1002/jpr3.70037
Andrew Turunen, Aisha Ahmed, Philip Thrush, Paula North, Ankur Chugh
We report a case of an adolescent girl post cardiac transplant with hypergammaglobulinemia and presumed celiac disease (CD), who had a persistently elevated anti-tissue transglutaminase immunoglobulin A despite a gluten free diet. Refractory CD and Crohn's disease were excluded. Concomitant dairy elimination led to normalization of celiac titers but no histological improvement. Ultimately, she was diagnosed with polytypic plasmacytosis from suspected immune dysregulation.
{"title":"Elevated tissue transglutaminase immunoglobulin A: Celiac disease or polytypic plasmacytosis?","authors":"Andrew Turunen, Aisha Ahmed, Philip Thrush, Paula North, Ankur Chugh","doi":"10.1002/jpr3.70037","DOIUrl":"10.1002/jpr3.70037","url":null,"abstract":"<p><p>We report a case of an adolescent girl post cardiac transplant with hypergammaglobulinemia and presumed celiac disease (CD), who had a persistently elevated anti-tissue transglutaminase immunoglobulin A despite a gluten free diet. Refractory CD and Crohn's disease were excluded. Concomitant dairy elimination led to normalization of celiac titers but no histological improvement. Ultimately, she was diagnosed with polytypic plasmacytosis from suspected immune dysregulation.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 3","pages":"312-315"},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12350038/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144857344","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}