JPGN reports最新文献

{"title":"Gluten-free schooling: Navigating challenges and triumphs for children with celiac disease.","authors":"Vanessa Weisbrod, Nasim Khavari, Imad Absah, Dale Lee, Danny Mallon, Catherine Raber, Vahe Badalyan, Mary Shull, Ritu Verma, Ashley Dunn, Anava Wren, Farah Mardini, Lisa Fahey, Jocelyn Silvester, Tracy Ediger, Maureen Leonard, Javier A Lopez-Rivera, Hilary Jericho","doi":"10.1002/jpr3.70013","DOIUrl":"10.1002/jpr3.70013","url":null,"abstract":"<p><strong>Objectives: </strong>Celiac disease (CeD), an autoimmune disorder triggered by gluten ingestion, induces intestinal inflammation and varied symptoms. Treatment entails a strict gluten-free diet (GFD), posing challenges for students, especially in schools with limited food choices. Nonadherence worsens symptoms, yet research on CeD's impact on students is scarce.</p><p><strong>Methods: </strong>The CeliacKIDS study, conducted across 11 United States academic medical centers, evaluated gluten exposure risk in pediatric CeD patients via a cross-sectional survey from August 2020 to August 2021. Participants recruited from treating institutions were approved by respective Institutional Review Boards.</p><p><strong>Results: </strong>One hundred and sixty children aged 5-18 (65% female, 34% male, 1% other) participated. Only 12% had GF food options at school, 31% brought their own for celebrations, and 41% lacked gluten free (GF) snacks after school. Thirty-six percent lacked a 504 plan, with 5% misinformed. Hand hygiene concerns included 24% using sanitizer and 10% rarely washing hands before eating. Sixty-two percent disclosed CeD, 35% when prompted, and 3% refused, mainly 13-year-old males. Two percent hesitated to request GF options, and 2% consumed potentially gluten-containing food from friends.</p><p><strong>Conclusion: </strong>Many US schools provide GF accommodations under the Americans with Disabilities Act (ADA) but lack national standards. Diverse GF options and education on GF-safe practices are crucial for GFD adherence. Discrepancies in parent-child perceptions emphasize the need for better communication. Adolescents, particularly females aged 12-13 with 2+ years on a GF diet, face higher risks. Transparent family-school communication is vital for optimizing the school experience and ensuring GFD adherence. Comprehensive nationwide school training is essential for celiac patients' well-being.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"99-106"},"PeriodicalIF":0.0,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096741","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 removal of high-powered magnets from the appendiceal orifice in an asymptomatic child.","authors":"Jeanette Freeman, Steven D Miller, Brett J Hoskins","doi":"10.1002/jpr3.12168","DOIUrl":"10.1002/jpr3.12168","url":null,"abstract":"<p><p>Ingestion of multiple magnets can lead to serious complications, including foreign body appendicitis. Appendicitis usually develops when an object blocks the appendiceal orifice, though outcomes may vary from asymptomatic passage to acute inflammation. While several case reports have documented appendectomy for magnet-induced foreign body appendicitis, and one report described endoscopic removal of magnets in a patient with appendicitis, this case is the first to report successful endoscopic removal of high-powered magnets from the appendix in an asymptomatic child. This intervention potentially prevented the development of appendicitis and the need for surgery. This case highlights the importance of considering foreign body retention in the appendix when objects fail to progress beyond the right lower quadrant.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"203-205"},"PeriodicalIF":0.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078058/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096730","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":"SPNing our wheels-Pancreatic solid pseudopapillary neoplasm as an extraluminal etiology of persistent duodenal ulceration.","authors":"Kanak V Kennedy, Jibraan A Fawad, Y Dana Neugut, Doris Valenzuela-Araujo, Alexander Coe, Tricia R Bhatti, Michael Acord, Michael D Manfredi, Petar Mamula, Kathleen M Loomes, Jefferson N Brownell","doi":"10.1002/jpr3.70003","DOIUrl":"10.1002/jpr3.70003","url":null,"abstract":"<p><p>Pediatric upper gastrointestinal (GI) bleeding secondary to duodenal ulceration is a potentially serious and life-threatening condition with a broad differential diagnosis. We present a pediatric case of a pancreatic head solid pseudopapillary neoplasm (SPN) presenting with duodenal ulceration and recurrent upper GI bleeding. This case highlights pancreatic SPNs as a rare extrinsic cause of duodenal ulceration. Recurrence and progression in size and extent of a duodenal ulceration in the absence of other inciting factors should raise suspicion for an extraluminal etiology.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"189-192"},"PeriodicalIF":0.0,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096749","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":"Unusual foreign body in a teenage boy: Case presentation and review of the literature.","authors":"Maria Misiou, Antonia Jeličič Kadič, Matjaž Homan","doi":"10.1002/jpr3.70008","DOIUrl":"10.1002/jpr3.70008","url":null,"abstract":"<p><p>Foreign bodies (FBs) in the lower gastrointestinal tract are sporadically described in children. The therapeutic approach is individualized, depending on the type of FB, the location, time since insertion and the severity of bowel injuries. These FBs can be frequently removed manually or endoscopically. However, exploratory laparotomy is inevitable in unsuccessful and complicated cases. Herein we present a teenager boy with a self-inserted large perfume bottle in the sigma, and we performed the review of the published literature.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"177-180"},"PeriodicalIF":0.0,"publicationDate":"2025-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078062/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096756","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":"Inflammatory bowel disease and hereditary hemochromatosis: A case series.","authors":"Jackson Fein, Amber Hildreth, Lillian J Choi, Jeannie S Huang","doi":"10.1002/jpr3.12167","DOIUrl":"10.1002/jpr3.12167","url":null,"abstract":"<p><p>We report a case series of three pediatric patients with inflammatory bowel disease (IBD) and variants in <i>HFE</i> which causes hereditary hemochromatosis (HH) type 1. Mice models suggest that these patients may be at increased risk for colitis and colon cancer. We detail the clinical course of these patients regarding IBD and iron overload and <i>HFE</i>-related comorbidities. We also review the known literature regarding HH and IBD overlap, HH detection and screening recommendations, HH management strategies, and iron management strategies in the context of both iron overload risk and IBD.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"126-131"},"PeriodicalIF":0.0,"publicationDate":"2025-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096707","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":"Chronic atrial and intestinal dysrhythmia: A rare genetic disorder of intestinal pseudo-obstruction.","authors":"Kanya Ahuja, Shivany Pathania, Nicole Baron, Julie Khlevner, Martin Bialer, Jennifer Mait-Kaufman","doi":"10.1002/jpr3.12158","DOIUrl":"10.1002/jpr3.12158","url":null,"abstract":"<p><p>Pediatric intestinal pseudo-obstruction (PIPO) is a rare and severe disorder of gastrointestinal (GI) motility; patients with PIPO display signs and symptoms of intestinal obstruction in the absence of occluding lesions. Chronic atrial and intestinal dysrhythmia (CAID) syndrome is an exceedingly rare autosomal recessive disorder caused by mutations in the SGO1 gene; SGO1 mutations disrupt the cohesin complex, a protein involved in chromosome organization during cell division and hence, DNA stability. CAID leads to both GI and cardiac dysfunction. This case report highlights an exceptional instance of early-onset pediatric CAID marked by recurrent pseudo-obstruction and, notably, developmental delay, which has not been previously described. The case emphasizes the importance of genetic evaluation in pediatric patients with unexplained pseudo-obstruction, and the importance of multidisciplinary management.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"162-165"},"PeriodicalIF":0.0,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078061/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096690","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":"Colorectal cancer in a 13-year-old with constitutional mismatch repair deficiency and <i>MUTYH</i> heterozygosity.","authors":"Chloe J Cohan, Caroline Chinchilla Putzeys, Brianna Pruniski, Paul Tran","doi":"10.1002/jpr3.70001","DOIUrl":"10.1002/jpr3.70001","url":null,"abstract":"<p><p>Constitutional mismatch repair deficiency (CMMRD) is a rare hereditary cancer syndrome resulting from biallelic mutations in DNA mismatch repair (MMR) genes that lead to early-onset cancers in children, including lymphoma and colorectal cancer (CRC). This case report presents a 13-year-old boy diagnosed with CMMRD due to a homozygous <i>MSH6</i> mutation and a heterozygous <i>MUTYH</i> mutation. The patient's initial misdiagnosis as neurofibromatosis type 1 (NF1) highlights the overlap between CMMRD and NF1, as their overlapping genetic pathologies can yield similar clinical manifestations. This case emphasizes the complexity of genetic diagnoses, particularly when multiple predispositions like MMR and <i>MUTYH</i> mutations coexist. Accurate identification of CMMRD and associated mutations is crucial for timely management and genetic counseling, given its significant implications for cancer risk and treatment strategies.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 3","pages":"288-291"},"PeriodicalIF":0.0,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12350025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144857342","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":"Have we hit the JAK-pot? Success of selective JAK 1 inhibitor following failure of pan-JAK inhibitor in refractory pediatric ulcerative colitis.","authors":"Jessica A Black, Brad Pasternak","doi":"10.1002/jpr3.70005","DOIUrl":"10.1002/jpr3.70005","url":null,"abstract":"<p><p>The treatment options available for pediatric ulcerative colitis (UC) are challenging due to few with Federal Drug Administration approval. Newer medications approved for adults include additional biologics with differing mechanisms of action and small molecule drugs, such as Janus kinase (JAK) inhibitors. Our case outlines a patient with refractory UC who failed mesalamine, adalimumab, tofacitinib, and vedolizumab. She was evaluated for colectomy, but upadacitinib was trialed. She achieved rapid clinical remission and avoided surgery. This case demonstrates the failure of a pan-JAK inhibitor (tofacitinib) and response to a more selective JAK 1 inhibitor (upadacitinib).</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 3","pages":"305-308"},"PeriodicalIF":0.0,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12350028/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144857349","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":"<i>JPGN Reports</i> 2024 Reviewer Acknowledgment.","authors":"","doi":"10.1002/jpr3.12150","DOIUrl":"https://doi.org/10.1002/jpr3.12150","url":null,"abstract":"","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11810812/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143412161","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":"National perspectives of barriers by insurance and pharmacy benefit managers in pediatric inflammatory bowel disease.","authors":"Brad D Constant, Jeremy Adler, Benjamin D Gold, Jennifer Dotson, Jenifer R Lightdale, Frank Scott, Shehzad Saeed, Sandra Kim, Jonathan Moses, Edwin F de Zoeten, Lucia Mirea, Andrew Ritchey, Brad Pasternak","doi":"10.1002/jpr3.70004","DOIUrl":"10.1002/jpr3.70004","url":null,"abstract":"<p><strong>Objectives: </strong>Early biologic initiation, dose optimization, and therapy modification based on disease phenotype are key to improving outcomes in pediatric inflammatory bowel disease (IBD). Enacting optimized therapy is often impeded by the lack of United States Food and Drug Administration (FDA) approval for pediatric use of newer advanced therapies or intensified dosing regimens. These barriers often result in initial payor denial of coverage and added prior authorization burden on physicians, leading to patient delays in medication initiation and therapy optimization, and development of disease-related morbidity.</p><p><strong>Methods: </strong>A sample of pediatric patients experiencing payor barriers to IBD biologic treatment, containing data on treatment delays and adverse outcomes, was obtained through a nationwide survey of pediatric gastroenterology providers via a longstanding, widely used pediatric gastroenterology Listserv (housed at University of Vermont) from January 2023 to August 2023.</p><p><strong>Results: </strong>Providers across the United States reported information for 113 patients experiencing payor barriers for biologics IBD treatment. Ultimately, 77% of initial denials were approved. The median time to receiving medication was 18 days, with administrative time (prior authorization and appeal) requiring a median of 180 min. More than half (60%) of patients experienced adverse outcomes or worsened quality of life due to delays in treatment, including 21% of patients who were hospitalized.</p><p><strong>Conclusions: </strong>These findings highlight the detrimental impact of payor barriers to treatment for children with IBD. Reforms that minimize delays in care and provider administrative burden are imperative to ensure that children receive timely evidence-based treatment that improves disease outcomes and prevents adverse events.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"80-90"},"PeriodicalIF":0.0,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078066/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096711","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}