JPGN reports最新文献_第10页

Hodgkin lymphoma of the ampulla of Vater: A rare cause of obstructive jaundice in children. 壶腹霍奇金淋巴瘤：儿童梗阻性黄疸的罕见病因。

JPGN reports Pub Date : 2026-04-07 eCollection Date: 2026-08-01 DOI: 10.1002/jpr3.70172

Sultana Alshammari, Homoud Alhebbi, Awad Al Qahtani, Sarah Algubaisi, Faisal Alhaffaf, Abdulrahman Al Robayan, Mohammed Almutairi, Saeed Alshieban, Mohammad Alshahrani, Tarek Khaled Alfawzan, Khalid Alkhamis, Ibrahim Al Hasan, Sami Wali

引用次数: 0

Can artificial intelligence pass the test? Evaluating chatbot scores on pediatric gastroenterology board-style questions. 人工智能能通过测试吗？评估聊天机器人在儿科胃肠病学委员会式问题上的得分。

JPGN reports Pub Date : 2026-04-07 eCollection Date: 2026-08-01 DOI: 10.1002/jpr3.70178

Zvi Weizman

引用次数: 0

Can artificial intelligence pass the test? Evaluating chatbot scores on pediatric gastroenterology board-style questions. 人工智能能通过测试吗？评估聊天机器人在儿科胃肠病学委员会式问题上的得分。

JPGN reports Pub Date : 2026-04-07 eCollection Date: 2026-08-01 DOI: 10.1002/jpr3.70177

Sharmilaa Babu, Arun Ajmera

引用次数: 0

Successfully performed video capsule endoscopy in an 8-month-old infant weighing 7.5 kg. 成功对体重7.5公斤的8个月大婴儿进行视频胶囊内窥镜检查。

JPGN reports Pub Date : 2026-04-06 eCollection Date: 2026-08-01 DOI: 10.1002/jpr3.70181

Paul-Christoph Zeisler, Robert Thimme, Ulrike Teufel-Schaefer, Michael Schultheiß

引用次数: 0

Gastric duplication cyst causing hypergastrinemia in an infant. 婴儿胃重复囊肿引起高胃泌素血症。

JPGN reports Pub Date : 2026-04-06 eCollection Date: 2026-08-01 DOI: 10.1002/jpr3.70176

Nathan Bryan, Ian Leibowitz

引用次数: 0

The utility of whole exome sequencing in diagnosing Wilson disease: A case report. 全外显子组测序在诊断Wilson病中的应用：1例报告。

JPGN reports Pub Date : 2026-04-03 eCollection Date: 2026-08-01 DOI: 10.1002/jpr3.70179

Mihir J Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C Lin

{"title":"The utility of whole exome sequencing in diagnosing Wilson disease: A case report.","authors":"Mihir J Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C Lin","doi":"10.1002/jpr3.70179","DOIUrl":"10.1002/jpr3.70179","url":null,"abstract":"Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24-h urine copper excretion, with Kayser-Fleischer (KF) rings being a supportive feature. We describe a 7-year-old girl who presented with isolated elevation of serum alanine aminotransferase (ALT), low serum ceruloplasmin, and presence of nonspecific autoantibodies. Liver biopsy revealed elevated hepatic copper content (241 μg/g dry weight), mild macrovesicular steatosis, negative copper staining and no KF rings. Targeted genetic testing identified a single pathogenic ATP7B variant, and whole exome sequencing (WES) later revealed a second variant of uncertain significance (VUS). Repeat liver biopsy showed hepatic copper content of 258 mcg/g, meeting diagnostic criteria. The patient was started on trientine, and ALT normalized within 3 months, with increased urinary copper excretion. This case underscores how WD can mimic autoimmune hepatitis and metabolic dysfunction-associated steatotic liver disease (MASLD), and how diagnosis may rely on integrating histologic findings, genetic data, and therapeutic response.","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":"394-397"},"PeriodicalIF":0.0,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13399009/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586629","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}

引用次数: 0

Successful treatment of eosinophilic esophagitis with upadacitinib prescribed for atopic dermatitis. 特应性皮炎用upadacitinib成功治疗嗜酸性食管炎。

JPGN reports Pub Date : 2026-04-03 eCollection Date: 2026-08-01 DOI: 10.1002/jpr3.70170

Nathalie Nguyen, Maureen Bauer

引用次数: 0

Understanding youth preferences for a mentorship program for celiac disease: A qualitative study. 了解青少年对乳糜泻指导计划的偏好：一项定性研究。

JPGN reports Pub Date : 2026-03-30 eCollection Date: 2026-08-01 DOI: 10.1002/jpr3.70162

Ashley L Dunn, Parnia Abrishamchian, Ally Koh, Garret Forshee, Jennifer Iscol, Anava Wren, Hilary Jericho

{"title":"Understanding youth preferences for a mentorship program for celiac disease: A qualitative study.","authors":"Ashley L Dunn, Parnia Abrishamchian, Ally Koh, Garret Forshee, Jennifer Iscol, Anava Wren, Hilary Jericho","doi":"10.1002/jpr3.70162","DOIUrl":"10.1002/jpr3.70162","url":null,"abstract":"Objective: Celiac disease (CeD) is an autoimmune condition triggered by gluten ingestion that causes intestinal inflammation and multiple symptoms. Management requires strict adherence to a gluten-free diet (GFD), yet youth with CeD on a GFD report lower quality of life (QoL) and higher rates of depression and anxiety. Although mentorship programs for youth with chronic illnesses can enhance QoL, increase self-efficacy, and improve mental health outcomes, research on CeD-specific programs remains sparse. This qualitative study explored the needs and preferences of youth with CeD to inform the development of a tailored mentorship program.Methods: Youth ages 13-25 with CeD participated in three online focus groups in fall 2023. Interviews were recorded, transcribed, and analyzed thematically.Results: Sixteen participants (66.67% female, 60% White), mean age 16.0 years and mean diagnosis age 8.47 years, completed focus group interviews. Three themes emerged: (1) shared lived experiences, (2) accessibility and flexibility in program structure, and (3) fostering connection and community. Participants favored peer relationships matched on age, gender, and shared interests over traditional hierarchical mentorship models. They preferred a hybrid format combining in-person and virtual one-on-one interactions focused on living with CeD, with flexible monthly meetings over 4-6 months.Conclusions: Findings highlight the importance of peer mentorship rooted in shared experiences and adaptable structures. Prioritizing peer connections, flexible program design, and community building may foster meaningful engagement among youth with CeD. These results guide the development of programs that support social connection, self-management, and psychosocial well-being in youth with CeD.","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":"442-448"},"PeriodicalIF":0.0,"publicationDate":"2026-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13399010/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586638","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}

引用次数: 0

Peptic ulcer disease: Insights and risk factors. 消化性溃疡疾病：见解和危险因素。

JPGN reports Pub Date : 2026-03-25 eCollection Date: 2026-08-01 DOI: 10.1002/jpr3.70161

Haidar Houmani, Islam Saidi, Meline M'rini, Julie Nguyen, Assaad Salame, Patrick Bontems, Kallirroi Kotilea

{"title":"Peptic ulcer disease: Insights and risk factors.","authors":"Haidar Houmani, Islam Saidi, Meline M'rini, Julie Nguyen, Assaad Salame, Patrick Bontems, Kallirroi Kotilea","doi":"10.1002/jpr3.70161","DOIUrl":"10.1002/jpr3.70161","url":null,"abstract":"Objectives: Peptic ulcer disease (PUD), affects adults and children, with Helicobacter pylori (H. pylori) infection being the most frequent cause. Diagnosis requires an upper gastrointestinal endoscopy (UGE) and invasive tests. However, besides H. pylori, risk factors for PUD in children remain unclear. The aim of this study is to investigate pediatric PUD's epidemiology, etiology, and associated risk factors.Methods: A retrospective case-control study included children aged 1 month to 17 years presenting PUD, defined as presence of ulceration/erosion of the gastric/duodenal mucosa, and two controls per case. UGE's were performed between 2016 and 2022 in a pediatric center. Diagnosis of H. pylori was based on culture and histology of gastric biopsies.Results: Among 2355 eligible children, 335 with PUD (14.2%) and 670 controls were included. The median age was 9.9 years (IQR: 6.1-13.1). The main indications for endoscopy were dyspepsia (38.7%) and chronic abdominal pain (15.5%). H. pylori infection was more frequent in cases than controls (35.7% vs. 17.2%, p < 0.001). Independent risk factors for PUD included age ≥ 11 years (OR 1.83, 95% CI: 1.21-2.75; p = 0.004), gastrointestinal bleeding (OR 3.18, 95% CI: 1.15-8.82; p = 0.026), and concomitant medication use (OR 6.93, 95% CI: 3.51-13.7; p < 0.001). Epigastric tenderness, systemic diseases, and a family history of PUD or H. pylori infection were associated with PUD only in univariable analysis.Conclusion: Older age, concomitant medications, and H. pylori infection are risk factors for pediatric PUD. In a tertiary center, PUD remains a frequent and clinically relevant diagnosis among children undergoing UGE.","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":"403-409"},"PeriodicalIF":0.0,"publicationDate":"2026-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13399169/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586572","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}

引用次数: 0

Itching for a diagnosis: Dysesthesias as an atypical presentation of Wilson disease in an adolescent-Case report. 瘙痒诊断：感觉障碍作为威尔逊病的非典型表现的青少年病例报告。

JPGN reports Pub Date : 2026-03-25 eCollection Date: 2026-08-01 DOI: 10.1002/jpr3.70148

Tierra L R Mosher, John Hicks, Krupa R Mysore

{"title":"Itching for a diagnosis: Dysesthesias as an atypical presentation of Wilson disease in an adolescent-Case report.","authors":"Tierra L R Mosher, John Hicks, Krupa R Mysore","doi":"10.1002/jpr3.70148","DOIUrl":"10.1002/jpr3.70148","url":null,"abstract":"Wilson disease (WD) is an autosomal recessive disorder of hepatic copper metabolism with varied clinical presentations. We describe a 15-year-old male referred for elevated aminotransferases, burning facial pruritis, scalp dysesthesias, and chronic bilateral lower extremity edema. Initial workup showed low-normal ceruloplasmin, hypergammaglobulinemia, positive antinuclear antibody (ANA) and anti-smooth muscle antibody, and liver biopsy compatible with autoimmune hepatitis (AIH) (simplified AIH score = 6). Lack of response to prednisone therapy for probable AIH prompted further testing. Moreover, 24-h urine copper was 1285 µg (normal 15-60 µg/24 h), ceruloplasmin was 9 mg/dL (initially 18 mg/dL), Kayser-Fleischer rings were appreciated, and elevated liver copper quantification. ATP7B gene testing revealed two heterozygous pathogenic variations in two different genes. Initiation of copper chelation therapy led to the resolution of symptoms and normalization of aminotransferases in 8 weeks. This case underscores the need for timely WD evaluation in patients with atypical presentations.","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":"383-386"},"PeriodicalIF":0.0,"publicationDate":"2026-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13398622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586478","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}

引用次数: 0