JPGN reports最新文献

{"title":"A rare cause of dysphagia: A case report on gastroesophageal adenocarcinoma in childhood.","authors":"Leo Fawaz, Mohammad El-Baba, Renee Dass","doi":"10.1002/jpr3.70282","DOIUrl":"https://doi.org/10.1002/jpr3.70282","url":null,"abstract":"<p><p>Dysphagia is a common symptom in pediatric patients with a broad differential diagnosis, while gastroesophageal (GE) malignancies represent an exceptionally rare cause. We report a previously healthy 9-year-old female patient who presented with 1 month of progressive dysphagia, intractable vomiting, and weight loss. Upper endoscopy revealed severe narrowing at the GE junction with polypoid lesions extending into the proximal stomach. Histopathology demonstrated poorly differentiated signet ring adenocarcinoma involving the distal esophagus, GE junction, and stomach. Further evaluation identified pulmonary metastases, consistent with Stage IV disease. Despite chemotherapy, nutritional support, and palliative interventions, the patient experienced rapid clinical deterioration and ultimately died. This case highlights the importance of considering rare malignancies in children with persistent dysphagia and weight loss and underscores the critical role of endoscopy in establishing the diagnosis.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13710937/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149291584","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":"Endoscopic management of buried bumper syndrome in children using a dedicated endoscopic resection device (Flamingo): A single-centre retrospective case series.","authors":"Alexander Adima, Yatin Patel","doi":"10.1002/jpr3.70272","DOIUrl":"https://doi.org/10.1002/jpr3.70272","url":null,"abstract":"<p><p>Buried bumper syndrome (BBS) is a serious complication of percutaneous endoscopic gastrostomy (PEG) tubes. Management of completely buried bumpers is challenging, as surgical approaches carry significant morbidity and endoscopic techniques can be technically demanding. A dedicated endoscopic resection device (Flamingo) is a tool designed to facilitate controlled incision and exposure of the buried bumper, but its use in paediatric patients has not previously been reported. We performed a single-centre retrospective review of paediatric patients with BBS treated using this device. Nine patients aged 2-16 years with a median American Society of Anesthesiologists Grade 3 were identified. Successful bumper removal was achieved in all cases, with a mean procedure time of 46.1 min. One recurrence was successfully retreated, and one readmission occurred due to jejunostomy tube displacement. No procedure-related complications were observed. These findings suggest the device is a safe and effective minimally invasive treatment for paediatric BBS.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13699950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149279448","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":"Aspartate aminotransferase at large-A case of disappearing macro-aspartate aminotransferase in a child.","authors":"Aaron Weston, Megan Rodney, Chris Florkowski, Linda Pike, Chris Sies, Simon Thompson, Richard King, Andrew S Day","doi":"10.1002/jpr3.70275","DOIUrl":"https://doi.org/10.1002/jpr3.70275","url":null,"abstract":"","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13710941/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149291574","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":"Standardized Tool for Prophylaxis (SToP) of venous thromboembolism: An asynchronous curriculum to enhance venous thromboembolism prevention in pediatric inflammatory bowel disease.","authors":"Hilary K Michel, Arianna Henning, Jeff Barbee, Jaclyn Gish-Lieberman, Sabina Ali","doi":"10.1002/jpr3.70281","DOIUrl":"https://doi.org/10.1002/jpr3.70281","url":null,"abstract":"<p><strong>Objectives: </strong>Compared to those without inflammatory bowel disease (IBD), pediatric patients with IBD are at three- to sevenfold increased risk for venous thromboembolism (VTE), a complication associated with substantial morbidity and mortality. Despite this risk, gaps persist in clinician awareness, and standardized education and guidelines regarding prevention are lacking. We aimed to improve pediatric healthcare provider knowledge and confidence regarding VTE prevention in patients hospitalized with active IBD.</p><p><strong>Methods: </strong>We created a three-module, online, asynchronous educational course. Using a pre-post survey design, we studied self-reported confidence and knowledge. Responses were measured using 5-point (confidence) and 3-point (knowledge) Likert scales, with higher scores reflecting greater confidence/knowledge. Post-course satisfaction was also measured. Change in confidence was analyzed using linear regression, and knowledge change using Wilcoxon signed-rank tests.</p><p><strong>Results: </strong>Sixty-five participants completed the course; 55% attending physicians, 71% female, 73% practiced in an academic setting. Mean (<i>M</i>) confidence in VTE prevention increased from pre- (<i>M</i> = 2.57, standard deviation [SD] = 0.98) to post-test (<i>M</i> = 4.07, SD = 0.60), <i>p</i> < 0.001. Median (Md) knowledge also increased from the module one pre- (Md = 3.00, interquartile range [IQR] = 1.00) to post-test (Md = 3.00, IQR = 0.00), <i>p</i> < 0.001, and module two pre- (Md = 2.00, IQR = 1.00) to post-test (Md = 3.00, IQR = 0.00), <i>p</i> < 0.001. Participants reported high levels of satisfaction with the curriculum.</p><p><strong>Conclusions: </strong>A brief, asynchronous educational intervention significantly improved clinician knowledge and confidence in VTE prevention for pediatric patients hospitalized with active IBD. Scalable online curricula may represent an effective strategy to address educational gaps and support improved clinical care in high-risk populations.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13710940/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149291589","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 diagnosis during evaluation for metabolic dysfunction associated steatotic liver disease: Glycogen storage disease type Ia presenting during adolescence in a male with severe obesity.","authors":"Carolena Trocchia, Rachel Herdes, Jodi Gedallovich, Amrita Narang","doi":"10.1002/jpr3.70247","DOIUrl":"https://doi.org/10.1002/jpr3.70247","url":null,"abstract":"<p><p>Metabolic dysfunction-associated steatotic liver disease (MASLD) is a common comorbidity of pediatric obesity that predisposes patients to hepatocellular adenomas (HCAs). HCAs however are nonspecific to MASLD and warrant further evaluation. We present a case of a 16-year-old male with severe obesity, and persistently elevated liver enzymes, initially evaluated for MASLD. Imaging revealed multiple hepatic lesions consistent with HCAs, prompting further genetic evaluation. Trio exome sequencing identified biallelic variants in the glucose-6-phophatase gene, confirming a diagnosis of glycogen storage disease type Ia (GSD Ia). This case highlights the diagnostic challenge posed by overlapping features of MASLD and GSD Ia, particularly hepatic steatosis, HCAs, and metabolic syndrome. Initial management of MASLD with glucagon-like peptide-1 therapy was discontinued given risk for hypoglycemia, and the patient continues glucose monitoring and cornstarch therapy. This case emphasizes the importance of including inborn errors of metabolism in the differential diagnosis for multifocal HCAs and concerns with obesity treatments.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13691576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149279517","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":"Human immunodeficiency virus infection mimicking very early onset inflammatory bowel disease.","authors":"Rasha Abi Radi Abou Jaoudeh, Cary Sauer, Teresa Oh","doi":"10.1002/jpr3.70245","DOIUrl":"10.1002/jpr3.70245","url":null,"abstract":"<p><p>Very early onset inflammatory bowel disease (VEO-IBD), defined as diagnosis before 6 years of age, is often associated with immune dysregulation and monogenic etiologies; however, infectious mimics may be overlooked in low-prevalence regions. We report a 4-year-old male with poor weight gain, intermittent diarrhea, elevated fecal calprotectin, and persistently elevated erythrocyte sedimentation rate. Endoscopy showed diffuse friable colonic mucosa, and biopsies demonstrated focal active colitis with mild crypt distortion. He was diagnosed with VEO-IBD and treated with mesalamine, infliximab, adalimumab, and upadacitinib, with incomplete response. At age 7, he was hospitalized with fever, cytopenias, and pulmonary infiltrates; human immunodeficiency virus (HIV) testing was positive, with <i>Pneumocystis jirovecii</i> pneumonia and cytomegalovirus viremia. After discontinuing immunosuppression and initiating antiretroviral therapy, gastrointestinal symptoms and inflammatory markers improved. HIV-associated colitis can closely mimic VEO-IBD, and progressive lymphopenia should prompt evaluation for secondary immunodeficiency.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673555/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149217908","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":"Novel variant and enteroendocrine hormone deficiency in a patient with proline and glutamate-rich protein with a coiled coil domain 1 (PERCC1) associated enteropathy: New diagnostic and therapeutic insights.","authors":"Teresa Di Chio, Daniela Gattini, Christina Belza, Iram Siddiqui, Bolette Hartmann, Meghan Zoe Benchimol, Shiqi Zhang, Neil E Warner, Aleixo M Muise, Yaron Avitzur","doi":"10.1002/jpr3.70259","DOIUrl":"10.1002/jpr3.70259","url":null,"abstract":"<p><p>Proline and glutamate-rich protein with a coiled coil domain 1 (PERCC1)-associated enteropathy is a rare monogenic congenital diarrhea due to defective enteroendocrine cells (EECs). We describe a 6-year-old female with intestinal failure since birth. Biopsies demonstrated normal appearing gastric mucosa on hematoxylin and eosin stains. Commercial whole-exome sequencing did not reveal clinically relevant variants. Subsequent testing, prompted by undetectable serum Gastrin, identified compound heterozygous variants in PERCC1: c.390 C > G (Y130X) and a novel c.492del (S164RfsX33) variant. Hormonal profiling showed low endogenous glucagon-like peptide (GLP)-1 and -2 levels, pre and postprandial. Immunohistochemistry showed a markedly reduced density of Gastrin containing G-cells and preserved EEC. At 5.5 years, endogenous GLP-2 deficiency supported off-label Teduglutide therapy. Baseline Parenteral Nutrition Dependency Index (PNDI) was 67%; after 16 months, PNDI decreased to 35%, with improved stool output and appetite. Congenital diarrhea with low serum levels of Gastrin, GLP-1, and -2 and abnormal G-cell staining should prompt targeted genetic analysis for PERCC1 with whole genome sequencing. Timely diagnosis enables Teduglutide therapy and parenteral nutrition weaning.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673151/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149217852","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":"Suspected fibrosing cholestatic hepatitis in an immunocompetent child with hepatitis C: Case report.","authors":"Sara Bohon, Regino Gonzalez-Peralta, Robert J Fontana, Richard Cordle, Robin LeGallo, Frank DiPaola","doi":"10.1002/jpr3.70250","DOIUrl":"10.1002/jpr3.70250","url":null,"abstract":"<p><p>A 12-year-old boy presented to our center with elevated aminotransferases, jaundice, right upper quadrant tenderness, and hepatomegaly. Evaluation revealed a highly elevated blood hepatitis C virus (HCV) ribonucleic acid (RNA) level, and liver biopsy showed canalicular and intrahepatic cholestasis, feathery degeneration of hepatocytes, and periportal/perisinusoidal fibrosis. Though there were atypical biopsy features, including absence of bile ductular reaction, we diagnosed suspected fibrosing cholestatic hepatitis (FCH). FCH secondary to HCV infection has been reported exclusively in immunosuppressed adults. To our knowledge, this is the first reported case of suspected FCH in a child, and the first reported case of suspected HCV-related FCH in any immunocompetent patient. Our patient was successfully treated with sofosbuvir/velpatasvir with sustained virologic response at 12 weeks. We conclude that FCH should be considered on the differential whenever any child with HCV infection presents with evidence of worsening liver injury including new hepatomegaly or jaundice.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13670154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149217934","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":"Achieving clinical and histologic remission with tezepelumab in an adolescent with refractory eosinophilic gastrointestinal disease: A case report.","authors":"Destiny Newsome, Colby Sharlin, Cindy Salm Bauer, Shauna Schroeder","doi":"10.1002/jpr3.70249","DOIUrl":"10.1002/jpr3.70249","url":null,"abstract":"<p><p>Tezepelumab is a human monoclonal antibody that binds to human thymic stromal lymphopoietin (TSLP), an epithelial cytokine that plays a role in Type 2 signaling. We describe a 17-year-old with a history of eosinophilic esophagitis (EoE) and eosinophilic gastroenteritis who demonstrated response to tezepelumab with both clinical and histologic remission. The patient had previously failed multiple standard therapies, including extensive dietary elimination, topical swallowed steroids, and dupilumab, with persistent symptoms and esophageal and duodenal eosinophilia. This case underscores the importance of continued research into eosinophilic gastrointestinal diseases (EGIDs) and suggests that TSLP blockade may offer a promising therapeutic option for patients with refractory EoE and non-EoE EGIDs.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673153/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149217830","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":"More than just anemia: Uncovering celiac disease beneath the surface: A case report.","authors":"Evan Greenhall, Bri Best, David F Carpenteri, Paula Prieto-Tizzard","doi":"10.1002/jpr3.70251","DOIUrl":"10.1002/jpr3.70251","url":null,"abstract":"<p><p>Celiac disease (CD) is an immune-mediated disorder triggered by gluten in genetically susceptible individuals. Although iron deficiency anemia is a common presentation, other micronutrient deficiencies may occur. We describe a 3.5-year-old female whose initial presentation of CD was severe, asymptomatic normocytic anemia secondary to copper (Cu) deficiency. She presented with mild abdominal symptoms, weight loss, and profound anemia (hemoglobin as low as 1.6 g/dL) requiring transfusions. Extensive infectious, inflammatory, hematologic, and oncologic evaluations were unrevealing. Workup demonstrated markedly elevated celiac serologies and low serum Cu. Endoscopy confirmed Marsh 3B duodenal changes consistent with CD. Treatment with a strict gluten-free diet and Cu supplementation led to normalization of hemoglobin, Cu levels, and growth parameters. This case highlights Cu deficiency-associated anemia as a rare pediatric presentation of CD and underscores the importance of considering CD in severe unexplained anemia with micronutrient deficiencies.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673148/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149217914","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}