JPGN reports最新文献

{"title":"Insurance IQ: Demystifying health insurance for young people with inflammatory bowel disease.","authors":"Laura Gilligan, Jeannie S Huang","doi":"10.1002/jpr3.70242","DOIUrl":"10.1002/jpr3.70242","url":null,"abstract":"<p><p>Many adolescents and young adults with inflammatory bowel disease (AYA-IBD) lack essential health insurance knowledge. We evaluated an electronic health record (EHR)-based educational intervention to improve insurance literacy. From January to August 2025, AYA-IBD who had completed a health insurance knowledge assessment and had an upcoming clinic visit received a patient portal message containing a brief educational video and infographic. Health insurance knowledge was reassessed at the subsequent visit. Among 140 participants, 49 (35%) viewed the message. Education intervention engagement was associated with significantly greater improvement in health insurance knowledge scores (<i>p</i> = 0.03), with between-group differences in scores evident by age (<i>p</i> = 0.04), ethnicity (<i>p</i> = 0.01), and insurance coverage (<i>p</i> < 0.01, government vs. private). EHR-delivered health insurance education improved health insurance knowledge in AYA-IBD and represents a scalable approach to support health literacy and engagement during transition-focused care.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13574565/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148979044","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":"Normal cholestanol in a genetically confirmed cerebrotendious xanthomatosis case presenting as neonatal jaundice.","authors":"Andrea E DeBarber, Maya Fowler, P Barton Duell, Eric Dybbro","doi":"10.1002/jpr3.70225","DOIUrl":"10.1002/jpr3.70225","url":null,"abstract":"<p><p>Cerebrotendinous xanthomatosis (CTX) is a treatable genetic disorder associated with deficiency of the sterol 27-hydroxylase enzyme (CYP27A1), important in bile acid synthesis. CTX may present in the newborn period as hepatic jaundice/cholestasis, that can resolve or can progress to fatal liver disease. Many cholestasis gene panel tests now include <i>CYP27A1</i>. For infants presenting with cholestasis that are identified to have CTX, follow-up biochemical testing is recommended. Here, we describe a case of an infant with neonatal jaundice genetically diagnosed with CTX through the use of cholestasis gene panel testing. Follow-up biochemical testing determined the infant had normal plasma cholestanol, inconsistent with a diagnosis of CTX according to expert guidance. We report that quantitative biochemical testing for bile acid precursors and bile alcohols provided definitive biochemical evidence of CTX and recommend that such testing is advised in infants with <i>CYP27A1</i> gene analysis indicative of CTX.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13560459/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148946431","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":"Direct clinician-pathologist multidisciplinary review and diagnostic revision in children with gastrointestinal disorders.","authors":"Emma Dahl, Christa Bergheim, Irina Berger, Ralph Melchior, Andreas Jenke","doi":"10.1002/jpr3.70239","DOIUrl":"10.1002/jpr3.70239","url":null,"abstract":"<p><p>Accurate pediatric gastrointestinal (GI) diagnosis often depends on integrating clinical, endoscopic, and histopathologic information. We evaluated the impact of weekly face-to-face multidisciplinary team (MDT) meetings on diagnosis in children undergoing endoscopy or liver biopsy at a tertiary center. This single-center study included 53 patients discussed between March and November 2025; because 6 children were reviewed twice, the analysis was case-based (59 MDT discussions). Diagnostic change was defined as any revision, reclassification, refinement, or exclusion of a suspected diagnosis after MDT review. Overall, diagnosis changed in 12 of 59 cases (20.3%). Endoscopic classifications changed significantly after MDT discussion (<i>p</i> = 0.0091), as did histopathology classifications (<i>p</i> = 0.0118). Pathologist experience was associated with pathology revision (<i>p</i> = 0.0293), whereas patient-specific parameters and endoscopist experience were not. Endoscopy requests to pathology were frequently sparse. These findings suggest that regular clinician-pathologist MDT review can improve diagnostic precision in pediatric GI practice.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13542516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148898780","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":"Referral patterns and patient characteristics in pediatric feeding disorder care at a multidisciplinary outpatient clinic.","authors":"Edward Tannenbaum, Riad Rahhal, Linda Cooper-Brown, Willow Cover, Adam Vaske, Dina Al-Zubeidi","doi":"10.1002/jpr3.70237","DOIUrl":"10.1002/jpr3.70237","url":null,"abstract":"<p><strong>Objectives: </strong>Pediatric feeding disorders (PFDs) are increasingly prevalent in the United States. Limited research has examined referral characteristics for outpatient feeding programs. This study analyzes patient referral characteristics based on referral patterns, patient demographics, and treatment interventions.</p><p><strong>Methods: </strong>A retrospective cohort study was conducted of pediatric patients evaluated in a multidisciplinary outpatient feeding clinic at a tertiary pediatric academic institution from 2021 to 2024.</p><p><strong>Results: </strong>We found a significant difference in the rate of referrals to our pediatric feeding program (<i>p</i> < 0.001), with primary care physician (PCP) referrals as the most common. There were significant differences in the rates of comorbidities (<i>p</i> = 0.004) and tube feeding (<i>p</i> < 0.001) among the referral sources, with specialist referrals associated with the highest rates and PCP referrals associated with the lowest rates. Oral aversion was common when a feeding tube was present, regardless of tube type.</p><p><strong>Conclusions: </strong>Given the high rate of referrals from PCPs, there is a significant opportunity to improve resource utilization and focus efforts on feeding disorders education for referring providers. In contrast, an accelerated pathway may need to be considered for patient referrals from specialists and neonatology due to higher comorbidities and the need for feeding tubes in this referral group. In the feeding tube category, our study also suggests that there may be no difference in the rates of aversive behaviors between different types of tubes used for enteral feeding; this may help guide provider/parent decision-making during enteral access selection.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13542515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148898793","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":"Clinician perspectives on infusion site-of-care shifts in pediatric inflammatory bowel disease: An anonymous national web-based survey.","authors":"Brad Pasternak","doi":"10.1002/jpr3.70238","DOIUrl":"10.1002/jpr3.70238","url":null,"abstract":"<p><p>Commercial payers and pharmacy benefit managers use site-of-care and specialty drug distribution policies (including white bagging and brown bagging) that can redirect infusion-based biologic therapies from hospital outpatient departments to alternate settings. We conducted an anonymous web-based survey distributed via a national pediatric gastroenterology (GI) listserv (February 13-27, 2026) to characterize perceived access barriers and decision drivers for acceptable infusion sites among pediatric inflammatory bowel disease (IBD) clinicians. Among 100 respondents, prior authorization/payer friction was most frequently rated as a major/severe pain point (66%). The highest-rated decision drivers were reaction management capability (88% very/extremely important), reliable communication back to the GI team (88%), patient experience (88%), and pediatric infusion expertise (87%). These findings highlight administrative burden as the dominant barrier and underscore the importance of safety capability and bidirectional care integration when pediatric patients with IBD are shifted across sites of care.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13530913/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148877074","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":"Reversal of surgical biliary diversion with ileal bile acid transport inhibitors: A new chapter in progressive familiar intrahepatic cholestasis type 1 management?","authors":"Teresa Botelho, Giulia Jannone, Roberto Tambucci, Catherine de Magnee, Isabelle Scheers, Etienne Sokal, Xavier Stephenne","doi":"10.1002/jpr3.70236","DOIUrl":"10.1002/jpr3.70236","url":null,"abstract":"<p><p>Progressive Familial Intrahepatic Cholestasis type 1 (PFIC1) is a multisystem disorder. Although liver transplant (LT) resolves the hepatic disease, post-LT complications may occur, including severe enteropathy and graft steatosis caused by impaired bile acids handling by the native intestine. Surgical biliary diversion (SBD) is commonly used to alleviate these complications but may result in long-term morbidity, such as fat-soluble vitamin deficiency and essential fatty acids malabsorption. We report a PFIC1 patient who developed post-LT protein-losing enteropathy, initially managed with SBD. While effective, SBD led to severe fat malabsorption requiring intravenous lipid supplementation. After initiation of ileal bile acid transport inhibitor (IBATi) therapy, SBD was surgically reversed without recurrence of enteropathy. This case highlights IBATi as a potential alternative to SBD and as a strategy to reverse prior surgical interventions and improve quality of life.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13527563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148868814","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":"Formula for the progressive reintroduction of fat into breast milk in infants with chylothorax.","authors":"Sonia María Alonso-Clemente, Ana Concheiro-Guisan","doi":"10.1002/jpr3.70235","DOIUrl":"10.1002/jpr3.70235","url":null,"abstract":"<p><p>Chylothorax in infants is a potentially life-threatening condition, often resulting from injury during cardiac surgery. Traditionally, breastfeeding is discontinued. Recently, feeding with defatted human milk has been safely introduced. However, methods for fat reintroduction are not standardized. We developed a mathematical formula to facilitate individualized, progressive reintroduction of fat into skimmed breast milk. Fat and protein content were analyzed by Fourier-transform infrared spectroscopy (FTIR). Defatting was performed by centrifugation at 3000 rpm at 2°C for 15 min. The formula considers: fat concentration of unmodified human milk and defatted milk, target fat concentration, and milk volume. Clinical application in a premature infant showed effective fat reintroduction (0.2 g/dL every 48 h), with no recurrence of chylothorax. Some factors influenced milk defatting. Breast milk provides important immunological and functional benefits. Our formula supports safe administration and can assist in designing further studies to determine optimal daily fat increments.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13530341/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148877120","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":"Shaping the research agenda of pediatric gastroenterology, hepatology, and nutrition: The proposal from a SIGENP expert groups.","authors":"Carlo Agostoni, Daniele Alberti, Renata Auricchio, Maria Elisabetta Baldassarre, Osvaldo Borrelli, Matteo Bramuzzo, Teresa Capriati, Carlo Catassi, Sabrina Cenni, Marco Crocco, Salvatore Cucchiara, Luigi Dall'Oglio, Paola De Angelis, Marco Deganello Saccomani, Fabiola Di Dato, Angelo Di Giorgio, Antonella Diamanti, Valeria Dipasquale, Enrico Felici, Ruggiero Francavilla, Valentina Giorgio, Luigi Greco, Raffaele Lorio, Flavio Labriola, Paolo Lionetti, Elena Lionetti, Giuseppe Maggiore, Monica Malamisura, Claudia Mandato, Antonio Marseglia, Emanuele Nicastro, Lorenzo Norsa, Salvatore Oliva, Licia Pensabene, Elena Sofia Pieri, Paolo Quitadamo, Giusy Ranucci, Sara Renzo, Claudio Romano, Silvia Salvatore, Luca Scarallo, Maria Immacolata Spagnuolo, Annamaria Staiano, Caterina Strisciuglio, Renato Tambucci, Riccardo Troncone, Pietro Vajro","doi":"10.1002/jpr3.70228","DOIUrl":"10.1002/jpr3.70228","url":null,"abstract":"<p><p>The Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) recognized the need to define research priorities and identify knowledge gaps to guide future investigations in pediatric digestive health. Following international examples, SIGENP aimed to provide a structured framework that aligns scientific innovation with clinical relevance and patient-centered outcomes. This narrative review represents the consensus output of SIGENP's thematic working groups (WGs) in key fields-inflammatory bowel disease (IBD), Gastrointestinal Endoscopy, Hepatology, Nutrition and Intestinal Failure, Functional and Motility Disorders, and Allergy and Immunity. Each WG conducted a focused review of recent literature, national activities, and registry data, identifying unmet needs and defining strategic objectives. Draft reports were refined through plenary discussions and finalized by consensus during dedicated SIGENP meetings. Across all areas, shared priorities emerged: advancing precision and personalized medicine, integrating multi-omics and digital tools, and promoting pediatric-specific evidence through multicenter collaboration and harmonized registries. Disease-specific gaps include early diagnosis and biomarker discovery in IBD and liver disease, standardization of pediatric endoscopy and motility diagnostics, optimization of nutritional interventions and intestinal failure management, and the exploration of organoid and immune models in celiac disease and food allergy. This review outlines a comprehensive research agenda in pediatric gastroenterology, hepatology, and nutrition developed through a structured SIGENP expert process. It provides a strategic framework to guide future research initiatives, foster collaboration, and ultimately improve outcomes for children with gastrointestinal and nutritional disorders.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13507637/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148835868","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":"Pediatric hereditary angioedema presenting as recurrent episodic abdominal pain and vomiting: Challenges in diagnosis and management.","authors":"Julio Nestor Busaniche, Jhoanna Valery Adauto Luizaga, Maria Soledad Arcucci, Claudio Alberto Salvador Parisi, Judith Cohen Sabban, Agustina Venditti, Valentina Riveros, Giancarlo Testa, Veronica Busoni","doi":"10.1002/jpr3.70232","DOIUrl":"https://doi.org/10.1002/jpr3.70232","url":null,"abstract":"<p><p>Recurrent episodic abdominal pain and vomiting, with symptom-free intervals between attacks, represent common and often challenging presentations in children, typically leading to extensive workups without a clear etiology, as standard diagnostic algorithms fail to include rare systemic conditions. We present the challenging diagnostic odyssey of a pediatric patient (symptom onset at age 4 years; diagnosis at age 8), culminating in an unexpected diagnosis of hereditary angioedema, a critical etiology often omitted from differentials. This case underscores a key gap in current clinical pathways and serves to expand the diagnostic consideration for specialists managing unexplained recurrent episodic abdominal symptoms.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13473848/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148763540","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":"Genetic sequencing of children with malrotation and midgut volvulus: A cross-sectional study.","authors":"Jonathan A Salazar, Shira Rockowitz, Courtney E French, Wanqing Shao, Daniel M Elman, Alexandra N Carey, Tom Jaksic, Piotr Sliz, Wen Hann Tan, Christopher P Duggan","doi":"10.1002/jpr3.70230","DOIUrl":"https://doi.org/10.1002/jpr3.70230","url":null,"abstract":"<p><strong>Objectives: </strong>Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra-short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated with any identifiable genetic conditions or syndromes. This study aimed at identifying specific genes associated with this phenotype in humans.</p><p><strong>Methods: </strong>Children with a history of SBS due to malrotation with midgut volvulus were identified. Children with SBS due to multiple diagnoses, with non-midgut volvulus, or with an identified genetic syndrome were excluded. Whole-genome sequencing (WGS) was performed on the proband and their biological parents.</p><p><strong>Results: </strong>Twenty-three families provided consent to be enrolled in the study, and WGS was obtained from 21 complete families (proband and two parents). Two patients had variants in the glutathione S-transferase theta 4 gene (<i>GSTT4</i>). Two patients had variants in the coiled-coil domain-containing 175 gene (<i>CCDC175</i>). Two patients had a de novo heterozygous variant in the WW domain-containing binding protein 4 gene (<i>WBP4</i>). Three patients had de novo heterozygous likely pathogenic variants in <i>TFRC</i>, which encodes the transferrin receptor.</p><p><strong>Conclusions: </strong>We identified four genes of potential interest in the etiology of malrotation and midgut volvulus, suggesting that the condition may be genetically heterogeneous. While the genes of interest identified have not yet been shown to be involved in the pathophysiology of this condition, they provide important areas for further investigation.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13473844/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148764491","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}