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DGAT-1 deficiency: Congenital diarrhea and dietary treatment. DGAT-1缺乏症：先天性腹泻及饮食治疗。
JPGN reports Pub Date : 2025-04-09 eCollection Date: 2025-05-01 DOI: 10.1002/jpr3.70016
Clemens Gardemann, Ulrike Och, Manfred Fobker, Thomas Kaiser, Judit Horvath, Beatrice Da Prada, Thorsten Marquardt
{"title":"DGAT-1 deficiency: Congenital diarrhea and dietary treatment.","authors":"Clemens Gardemann, Ulrike Och, Manfred Fobker, Thomas Kaiser, Judit Horvath, Beatrice Da Prada, Thorsten Marquardt","doi":"10.1002/jpr3.70016","DOIUrl":"10.1002/jpr3.70016","url":null,"abstract":"<p><p>DGAT-1 (Diacylglycerol Acyltransferase-1) deficiency is an autosomal recessive disorder which causes severe impairment in lipid absorption. We report a case of an infant suffering from persistent diarrhea starting at the age of four weeks. Further investigations identified DGAT-1 deficiency as underlying cause. A treatment plan was developed which included a very-low fat diet administered as infant formula, essential fatty acid supplementation, C8 medium chain triglycerides- and fat-soluble vitamin supplementations. The patient was put into full remission after administration of the treatment plan and weight curves normalized at the 50th percentile at the age of 24 months. Intermittent episodes of loose stools were due to an excessive intake of fructose via extensive fruit consumption. DGAT-1 deficiency is a rare genetic disease which leads to congenital diarrhea and is especially dangerous in infancy. Our treatment plan put the patient into full remission showing that C8 MCT oil should be preferred over treatment with C8/C10 mixtures.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"121-125"},"PeriodicalIF":0.0,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096693","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
An indolent case of traumatic bowel injury as a superior mesenteric artery syndrome mimic. 一例外伤性肠损伤作为肠系膜上动脉综合征模拟。
JPGN reports Pub Date : 2025-03-26 eCollection Date: 2025-05-01 DOI: 10.1002/jpr3.70019
Arvinth Shivaa Sethuraman, Ashley Giselle Fonseca, Jacobo Leopoldo Santolaya
{"title":"An indolent case of traumatic bowel injury as a superior mesenteric artery syndrome mimic.","authors":"Arvinth Shivaa Sethuraman, Ashley Giselle Fonseca, Jacobo Leopoldo Santolaya","doi":"10.1002/jpr3.70019","DOIUrl":"10.1002/jpr3.70019","url":null,"abstract":"<p><p>Traumatic bowel injury is an uncommon injury pattern that can have a delayed presentation after an initial trauma hospitalization and present to pediatricians with nonspecific symptoms. This syndrome is often missed and can mimic other common gastrointestinal conditions. Our case presents a previously healthy 16-year-old girl with recent trauma admission who re-presented to the hospital with a presumed superior mesenteric artery syndrome and had a mixed response to initial management. Given persistent symptoms despite standard care, subsequent management consisted of an exploratory laparotomy that led to findings of a strictured segment of the bowel that was resected and led to clinical recovery. These patients can initially present with normal imaging and have an evolving inflammatory-mediated process due to microvascular injury and abscess formation. These injuries should be included in the differential diagnosis of patients with nausea, vomiting, abdominal pain, weight loss, and fever in the setting of recent blunt abdominal trauma.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"181-183"},"PeriodicalIF":0.0,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096672","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
A novel approach to stabilization of bleeding gastroesophageal varices in infants. 一种稳定婴儿胃食管静脉曲张出血的新方法。
JPGN reports Pub Date : 2025-03-24 eCollection Date: 2025-05-01 DOI: 10.1002/jpr3.70018
Sussette G Szachowicz, Elyse Kerian, Catherine DeGeeter, Riad Rahhal
{"title":"A novel approach to stabilization of bleeding gastroesophageal varices in infants.","authors":"Sussette G Szachowicz, Elyse Kerian, Catherine DeGeeter, Riad Rahhal","doi":"10.1002/jpr3.70018","DOIUrl":"10.1002/jpr3.70018","url":null,"abstract":"<p><p>Gastroesophageal variceal bleeding is the most serious complication of portal hypertension. The interventions available including sclerotherapy, variceal banding, and balloon tamponade, are limited by patient age. A 4-month-old with congenital cytomegalovirus, cholestasis, splenomegaly presented to the emergency room after two episodes of hematemesis. The patient required a transfusion of packed red blood cells for anemia. Upper endoscopy revealed no active bleeding, four grade 3 esophageal varices with red wale signs, and a single gastric varix. Sclerotherapy into high-risk varices was completed. Forty-eight hours later, patient developed re-bleeding. Upper endoscopy revealed bright red blood in the stomach. A large clot at the gastroesophageal junction was attributed to the gastric varix. Given the age of the patient and small size, endoscopic bleeding control interventions were limited. A foley catheter was placed in an orogastric manner for balloon tamponade. The intervention was a temporizing measure to allow for transfer to a liver transplant center.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"209-212"},"PeriodicalIF":0.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078041/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096666","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
A case report of successful band ligation of bleeding anastomotic duodenal varix in an adolescent patient. 青少年十二指肠吻合口静脉曲张出血结扎成功1例。
JPGN reports Pub Date : 2025-03-17 eCollection Date: 2025-05-01 DOI: 10.1002/jpr3.70017
Lauren E Hamilton, Joshua Carroll, Paul Tran
{"title":"A case report of successful band ligation of bleeding anastomotic duodenal varix in an adolescent patient.","authors":"Lauren E Hamilton, Joshua Carroll, Paul Tran","doi":"10.1002/jpr3.70017","DOIUrl":"10.1002/jpr3.70017","url":null,"abstract":"<p><p>Ectopic varices are defined as portosystemic venous collaterals occurring in the gastrointestinal tract outside of the cardio-esophageal region. Duodenal varices are not routinely encountered by pediatric gastroenterologists. At the time of this case report, there are no consensus guidelines on the management of bleeding duodenal varices in pediatric patients. This is a case of a 14-year-old young woman with a history of multi-visceral transplantation due to short gut syndrome. The patient had developed duodenal varices near her transplant anastomosis, which were incidentally biopsied on endoscopy causing resultant bleeding that required endoscopic hemostasis. This case highlights the need for recognition of duodenal varices as a potential etiology of gastrointestinal bleeding in children and describes band ligation as an effective hemostatic modality.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"206-208"},"PeriodicalIF":0.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078069/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096656","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
Effect of cystic fibrosis modulator therapies on serum levels of fat-soluble vitamins. 囊性纤维化调节剂治疗对血清脂溶性维生素水平的影响。
JPGN reports Pub Date : 2025-03-17 eCollection Date: 2025-05-01 DOI: 10.1002/jpr3.70007
Elena Crehuá-Gaudiza, Saioa Vicente Santamaría, Marina Álvarez Beltrán, Carmen Martín Fernández, Carlos Tutau Gómez, Inés Loverdos Eseverri, Ruth García Romero, Encarni Torcuato Rubio, Rodrigo Del Brío Castillo, María Garriga García, Celia Gascón Galindo, José Ramón Gutiérrez Martínez, Ana María Castro Millán, Sara Sierra San Nicolás, Pilar Ortiz Pérez, Camila García Volpe, Enrique Salcedo Lobato, Agustín De La Mano Hernández, Sara María Fernández González, Ana Reyes Domínguez, Luis Peña-Quintana, David González Jiménez
{"title":"Effect of cystic fibrosis modulator therapies on serum levels of fat-soluble vitamins.","authors":"Elena Crehuá-Gaudiza, Saioa Vicente Santamaría, Marina Álvarez Beltrán, Carmen Martín Fernández, Carlos Tutau Gómez, Inés Loverdos Eseverri, Ruth García Romero, Encarni Torcuato Rubio, Rodrigo Del Brío Castillo, María Garriga García, Celia Gascón Galindo, José Ramón Gutiérrez Martínez, Ana María Castro Millán, Sara Sierra San Nicolás, Pilar Ortiz Pérez, Camila García Volpe, Enrique Salcedo Lobato, Agustín De La Mano Hernández, Sara María Fernández González, Ana Reyes Domínguez, Luis Peña-Quintana, David González Jiménez","doi":"10.1002/jpr3.70007","DOIUrl":"10.1002/jpr3.70007","url":null,"abstract":"<p><p>This is a prospective, multicenter study of a cohort of 224 cystic fibrosis (CF) patients treated with CF transmembrane conductance regulator (CFTR) modulators (CFTRm). Our aim was to prospectively analyze the effect of CFTRm treatment on fat-soluble vitamin serum levels. Demographic and clinical data were recorded, and fat-soluble vitamin levels were analyzed at baseline, and at 6 and 12 months after starting treatment. Two groups were analyzed separately: patients receiving dual therapy lumacaftor/ivacaftor or tezacaftor/ivacaftor (Lum/Tez+Iva), and those on triple therapy with elexacaftor/tezacaftor/ivacaftor (ETI). We found that treatment with ETI produced a significant increase in vitamin D and A levels within the first 6 months, which was maintained at 12 months. However, with dual therapy, we observed an increase only in vitamin A levels within the first 6 months, which was not maintained at 12 months. No differences were found in vitamin E serum levels between the groups.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"146-152"},"PeriodicalIF":0.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078071/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096698","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
Response to "Letter to the Editor in response to: 'ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis'". 针对“ZFYVE19基因突变：一种进行性家族性肝内胆汁淤积症的新变体”致编辑的回复。
JPGN reports Pub Date : 2025-03-17 eCollection Date: 2025-05-01 DOI: 10.1002/jpr3.70010
Ben Sabbahia Dalal
{"title":"Response to \"Letter to the Editor in response to: 'ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis'\".","authors":"Ben Sabbahia Dalal","doi":"10.1002/jpr3.70010","DOIUrl":"10.1002/jpr3.70010","url":null,"abstract":"","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"214"},"PeriodicalIF":0.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078040/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096715","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
Letter to the Editor in response to: "ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis". 致编辑的回应信：“ZFYVE19基因突变：进行性家族性肝内胆汁淤积症的新变体”。
JPGN reports Pub Date : 2025-03-17 eCollection Date: 2025-05-01 DOI: 10.1002/jpr3.70011
Angela Pepe, Claudia Mandato
{"title":"Letter to the Editor in response to: \"ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis\".","authors":"Angela Pepe, Claudia Mandato","doi":"10.1002/jpr3.70011","DOIUrl":"10.1002/jpr3.70011","url":null,"abstract":"","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"213"},"PeriodicalIF":0.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096708","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
Refeeding syndrome and rumination in a pediatric patient: A case report reflecting an underdiagnosed pediatric emergency. 儿科患者的再喂养综合征和反刍：反映未确诊的儿科急诊病例报告。
JPGN reports Pub Date : 2025-03-11 eCollection Date: 2025-05-01 DOI: 10.1002/jpr3.70009
Olga Nikolaidou, Efstratios Saliakellis, Georgia Ioannidou, Dimitra Karakosta, Fotini Sotiriadou, Despoina Tramma, Maria Fotoulaki
{"title":"Refeeding syndrome and rumination in a pediatric patient: A case report reflecting an underdiagnosed pediatric emergency.","authors":"Olga Nikolaidou, Efstratios Saliakellis, Georgia Ioannidou, Dimitra Karakosta, Fotini Sotiriadou, Despoina Tramma, Maria Fotoulaki","doi":"10.1002/jpr3.70009","DOIUrl":"10.1002/jpr3.70009","url":null,"abstract":"<p><p>Refeeding syndrome (RS) is a potentially life-threatening acute metabolic deterioration, affecting malnourished individuals. Although it is a well described condition, the evidence in pediatric population is limited. Herein, we describe a case of a 7-year-old patient with rumination syndrome and developmental delay, complicated with RS during the course of an acute gastroenteritis.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"196-198"},"PeriodicalIF":0.0,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078065/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096713","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
A case of Crohn's disease in a patient with megacystis microcolon intestinal hypoperistalsis syndrome. 克罗恩病合并巨囊性微结肠肠蠕动不足综合征1例。
JPGN reports Pub Date : 2025-03-10 eCollection Date: 2025-05-01 DOI: 10.1002/jpr3.70015
Caroline Chinchilla Putzeys, Trenton House, Janet Iurilli, Ana Gomez, Shipra Garg, Elisa Wershba, Gary Silber, Mitchell Shub, Dana Williams
{"title":"A case of Crohn's disease in a patient with megacystis microcolon intestinal hypoperistalsis syndrome.","authors":"Caroline Chinchilla Putzeys, Trenton House, Janet Iurilli, Ana Gomez, Shipra Garg, Elisa Wershba, Gary Silber, Mitchell Shub, Dana Williams","doi":"10.1002/jpr3.70015","DOIUrl":"10.1002/jpr3.70015","url":null,"abstract":"<p><p>Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital condition resulting in symptoms of bowel and bladder pseudo-obstruction. It carries severe morbidity and mortality; a minority of patients survive to adulthood. Recurrent bowel surgeries, small intestinal bacterial overgrowth, and slowed intestinal transit in MMIHS could serve as potential risk factors for chronic inflammation of the intestinal mucosa, which has been associated with risk of inflammatory bowel disease. In this case report, we detail the unusual presentation of a patient diagnosed with both MMIHS and inflammatory bowel disease.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"184-188"},"PeriodicalIF":0.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096654","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
Practices of North American pediatric gastroenterologists in the management of celiac disease-A survey study. 北美儿科胃肠病学家在乳糜泻治疗中的实践——一项调查研究。
JPGN reports Pub Date : 2025-03-10 eCollection Date: 2025-05-01 DOI: 10.1002/jpr3.12166
Hamza Hassan Khan, Sanjay Kumar, Hernando Lyons
{"title":"Practices of North American pediatric gastroenterologists in the management of celiac disease-A survey study.","authors":"Hamza Hassan Khan, Sanjay Kumar, Hernando Lyons","doi":"10.1002/jpr3.12166","DOIUrl":"10.1002/jpr3.12166","url":null,"abstract":"<p><p>Celiac disease (CD) is a common autoimmune disorder characterized by an immune-mediated reaction to gluten. We conducted a survey study of the pediatric gastroenterology list server to assess the practices of North American pediatric gastroenterologists in the management of CD. Overall, 160 out of 2400 respondents participated in the study, of which 52.5% of the respondents were females and 72.5% were practicing in university hospitals. Overall, respondents were practicing in adherence to the latest guidelines, except only 36% were screening for hepatitis B virus immunization at diagnosis on most of the visits, and 25% were utilizing human leukocyte antigens typing on most visits if serologies were negative. In addition, female respondents screened for vitamin D deficiency more often than males with a <i>p</i> value < 0.05.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"137-145"},"PeriodicalIF":0.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078043/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096712","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
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