JPGN Reports最新文献

{"title":"Liver Biopsy Leads to Serendipitous Diagnosis of Glycogen Storage Disease Type IX in a Patient With Fontan-Associated Liver Disease","authors":"Erin Hyer, Caitlin Alexander, Elizabeth B. Rand, Tamir Diamond","doi":"10.1097/pg9.0000000000000377","DOIUrl":"https://doi.org/10.1097/pg9.0000000000000377","url":null,"abstract":"Fontan-associated liver disease (FALD) is a form of congestive hepatopathy resulting from Fontan palliation procedures in patients with single ventricle physiology. Although there is variation between pediatric centers, the surveillance for FALD may include liver biopsies for assessment of degree of fibrosis. Our report describes a 7-year-old girl with hypoplastic left heart syndrome who underwent Fontan palliation at age 2, and presented with disproportionate hepatomegaly, elevated liver enzymes, and increased stiffness on liver elastography. Liver biopsy showed diffuse hepatocellular cytoplasmic glycogenation, leading to the diagnosis of glycogen storage disease IX. This case demonstrates the importance of investigating unexpected physical exam findings and the potential for serendipitous benefit of liver biopsy in FALD.","PeriodicalId":17618,"journal":{"name":"JPGN Reports","volume":"3 5","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135869554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adenomyomatosis of the Gallbladder as a Cause of Abdominal Pain in Pediatrics: A Case Report of an Adolescent and a Literature Review","authors":"Abdullah Almasoud, Fernando Alvarez, Colette Deslandres","doi":"10.1097/pg9.0000000000000378","DOIUrl":"https://doi.org/10.1097/pg9.0000000000000378","url":null,"abstract":"Objectives: Adenomyomatosis (ADM) of the gallbladder is a benign condition, which is characterized by mucosal hyperplasia of the gallbladder and formation of intramucosal invagination through the thickened mucosal layer. The pathogenesis is unclear. This condition is rare in children. The aim of this publication is to present the case of a teenager with ADM of the gallbladder and review the pediatric literature on this topic. Methods: A 17-year-old female presented with severe postprandial right upper quadrant abdominal pains. The abdominal ultrasound revealed ADM of the gallbladder. Results: A curative laparoscopic cholecystectomy was performed. Since 1998, eleven of the 13 pediatrics cases reported with ADM of the gallbladder were symptomatic and a cholecystectomy was curative in all of them. Conclusion: ADM of the gallbladder should be considered in the differential diagnosis of recurrent right abdominal upper quadrant pains in pediatrics. Abdominal ultrasound is the best diagnostic procedure. In symptomatic patients, a cholecystectomy is curative.","PeriodicalId":17618,"journal":{"name":"JPGN Reports","volume":"9 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135870621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endoscopic Removal of a Recurrent Trichobezoar in an Adolescent: A Case Report","authors":"Shivangi Tetarbe, Tsering Yangchen Dirkhipa, Parag Janardhan Karkera, Praveen Benjamin Dennis, Ira Shah","doi":"10.1097/pg9.0000000000000371","DOIUrl":"https://doi.org/10.1097/pg9.0000000000000371","url":null,"abstract":"Trichobezoar, a rare condition of intragastric hair accumulation is commonly associated with an underlying psychological condition. Removal of the bezoar either endoscopically or surgically (laparoscopy or laparotomy) with concurrent psychiatric assessment and treatment is the mode of treatment. We present a 10-year-old child with recurrent trichobezoar, who was managed surgically the first time, and subsequently endoscopic removal was done on recurrence of bezoar after 3 months. We also present the difficulties encountered during endoscopic bezoar removal.","PeriodicalId":17618,"journal":{"name":"JPGN Reports","volume":"282 ","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136102477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plummer-Vinson Syndrome and Role of Endoscopic Balloon Dilatation in a 4-Year-Old Child","authors":"Priyanka Sahajwani, Megha Rustagi, Shivangi Tetarbe, Ira Shah","doi":"10.1097/pg9.0000000000000375","DOIUrl":"https://doi.org/10.1097/pg9.0000000000000375","url":null,"abstract":"Plummer-Vinson syndrome (PVS), also called Patterson-Kelly-Brown syndrome, is a rare cause of dysphagia in children. This syndrome is associated with single or multiple webs in the upper esophagus with frequent iron deficiency. PVS usually occurs in adults, particularly in Caucasian middle-aged women, in the fourth to seventh decade of life, and is rare in childhood. There are various theories about what causes PVS. One theory suggests that iron deficiency plays a crucial role in its development. Iron repletion often improves dysphagia, although some patients require esophageal dilatation or bougienage. Herein, we describe the case of a 4-year-old male child, having complaints of difficulty in swallowing solid food, diagnosed with PVS.","PeriodicalId":17618,"journal":{"name":"JPGN Reports","volume":"33 5","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135013166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrent Rectal Prolapse Successfully Treated With Polyethylene Glycol","authors":"Regina J. Lee, Kathleen Lo, Rachel B. Schenker, Yuhua Zheng","doi":"10.1097/pg9.0000000000000380","DOIUrl":"https://doi.org/10.1097/pg9.0000000000000380","url":null,"abstract":"A previously healthy 18-month-old male presented to the emergency department for rectal prolapse. Parents endorsed 2 months of intermittent, worsening rectal bulging. History is notable for the daily consumption of 32 ounces of milk. The patient was stooling daily, eating and drinking well, and gaining weight appropriately. The successful manual reduction was administered in the ED. The patient was discharged on daily polyethylene glycol (PEG) 4.25 g daily. Prolapse improved on daily PEG. However, after PEG discontinuation, prolapse returned, significantly larger and more difficult to reduce (Figs. 1 and 2). Given the worsening prolapse, pediatric surgery performed a repeat manual reduction under sedation with flexible sigmoidoscopy. The procedure was effective, and no polyps or lead points were visualized. No biopsies were obtained during the procedure. After this manual reduction under anesthesia, the patient was adherent to a regimen of 17 g of PEG daily. No further prolapse recurrences occurred.Figure 1.: Large rectal prolapse before manual reduction.Figure 2.: Lateral view of rectal prolapse.Rectal prolapse is classified as partial/mucosal or complete prolapse (1). Our patient had the latter, which involves full-thickness rectal wall extrusion. Predisposing conditions include chronic constipation (most common), increased bowel motility, celiac disease, and cystic fibrosis (1–3). Additionally, there are case reports highlighting the relationship between cow’s milk protein allergy and chronic constipation, which may warrant further consideration for the reduction and/or elimination of cow’s milk in the diet (4). Since our patient’s prolapse was most likely secondary to constipation with excessive milk intake, an additional workup was not performed. In general, management for rectal prolapse involves (1) immediate manual reduction if instantaneous spontaneous reduction does not occur and (2) constipation bowel regimens. For most children, rectal prolapse resolves with a bowel regimen alone. There are no definitive indications for surgery, but it can be considered if prolapse persists despite conservative therapy or if there is difficulty in manual reduction (1–3,5). ACKNOWLEDGMENTS All attempts have been exhausted in trying to contact the parents or guardian for the purpose of attaining their consent to publish the Image.","PeriodicalId":17618,"journal":{"name":"JPGN Reports","volume":"20 11","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135367223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Helicobacter pylori Eradication Rate Using Stool Antigen Test in Vietnamese Children: A Prospective Multicenter Study","authors":"Tu Cam Nguyen, Annie Robert, Thu Hien Anh Pham, Khoa Hoang Vo, Loc Duc Le, Ha Tu Ma, My Huynh Thao Le, Thai Hoang Che, Hiep Thanh Nguyen, Dinh Quang Truong, Patrick Bontems, Phuong Ngoc Van Nguyen","doi":"10.1097/pg9.0000000000000374","DOIUrl":"https://doi.org/10.1097/pg9.0000000000000374","url":null,"abstract":"Objectives: This study assessed the diagnostic value of a monoclonal immunoassay stool antigen test (HpSA) for Helicobacter pylori (H. pylori ) infection and the eradication outcomes. Methods: Children undergoing digestive endoscopy at 2 Children’s Hospitals in Ho Chi Minh City were recruited. Treatment was offered to H. pylori -infected children. Stool samples were collected on the same day as the endoscopy procedure and after 6 weeks post-treatment for HpSA. Diagnostic value and optimal cutoff of HpSA were assessed using biopsy-based tests as the gold standard. Eradication was defined as a negative HpSA post-treatment. Ethical approval was obtained, and informed consent was signed by the participants. Results: In total, 394 patients participated in the study. The most common symptoms were epigastric pain (74.6%) and vomiting (37.3%). H. pylori status was positive in 78% of patients (306/394), doubtful in 10.1%, and negative in 12.2%. HpSA was positive in 73.2% (142/194). Excluding doubtful infections, the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of HpSA were 87.4%, 95.2%, 99.2%, 51.3%, and 88.4%, respectively. The optimal cutoff value of 0.148 provided similar accuracy to the recommended cutoff. The eradication rate was 56.1% in per-protocol analysis and 27.9% in intention-to-treat analysis. Treatment success was higher in boys, but lower among malnourished children and those infected with cagA+ strains. Conclusions: The HpSA is reliable for identifying H. pylori infection in epidemiological studies and assessing eradication outcomes. The low eradication rate highlights the need for an appropriate intervention strategy in Vietnamese children.","PeriodicalId":17618,"journal":{"name":"JPGN Reports","volume":"18 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135146455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Healthy Patients With AKR1D1 Mutation Not Requiring Primary Bile Acid Therapy: A Case Series","authors":"Akihiko Kimura, Jun Mori, Anh-Hoa Nguyen Pham, Kim-Oanh Bui Thi, Hajime Takei, Tsuyoshi Murai, Hisamitsu Hayashi, Hiroshi Nittono","doi":"10.1097/pg9.0000000000000372","DOIUrl":"https://doi.org/10.1097/pg9.0000000000000372","url":null,"abstract":"Δ 4 -3-Oxosteroid 5β-reductase ( AKR1D1 ) deficiency typically causes severe cholestasis occurs in newborns, leading to death unless patients are treated with primary bile acids. However, we encountered an AKR1D1 deficiency patient treated with only ursodeoxycholic acid who had cholestasis until about 1 year of age but then grew up healthy without further treatment. We also have been following other healthy patients with AKR1D1 mutation who have never developed cholestasis and have not been treated. However, reports are few, involving 3 patients. To better understand and clinically manage a diverse group of patients with AKR1D1 mutation who do not develop potentially fatal cholestasis in the neonatal period, ongoing accumulation and study of informative cases is needed.","PeriodicalId":17618,"journal":{"name":"JPGN Reports","volume":"139 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135093079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hereditary Ichthyosis With Gastrointestinal Manifestations: A Case Report","authors":"Shivangi Tetarbe, Suhani Jain, Ira Shah","doi":"10.1097/pg9.0000000000000370","DOIUrl":"https://doi.org/10.1097/pg9.0000000000000370","url":null,"abstract":"Gut inflammation and defect in the gut mucosal barrier appear to have a correlation with skin diseases and vice versa. The coexistence of hereditary ichthyosis with active colitis has never been reported. We present a 17-year-old female with ichthyosis since birth, abdomen pain for 3 months, with acute colitis. After the initial diagnosis, the patient was started on antituberculous therapy (ATT), steroids, and mesalamine. She followed up with us for 1 year where there was resolution of symptoms. Steroids were stopped after 16 weeks, mesalamine was stopped after 20 weeks in view of low absolute neutrophil counts and ATT was stopped after 1 year. She was asymptomatic post 18 months of stopping ATT.","PeriodicalId":17618,"journal":{"name":"JPGN Reports","volume":"34 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135094609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Safety and Efficacy of a Third Dose of the BNT162b2 Vaccine in Liver-Transplanted and Healthy Adolescents","authors":"Palittiya Sintusek, Supranee Buranapraditkun, Siriporn Khunsri, Thanunrat Thongmee, Preeyaporn Vichaiwattana, Warunee Polsawat, Yong Poovorawan","doi":"10.1097/pg9.0000000000000373","DOIUrl":"https://doi.org/10.1097/pg9.0000000000000373","url":null,"abstract":"Objectives: According to our previous study, the 2-dose-BNT162b2 vaccination is less effective against the Omicron variant. This study aimed to assess the safety and efficacy of a 3-dose-BNT162b2 vaccination in liver-transplanted (LT) and healthy adolescents. Methods: LT and healthy adolescents who met the inclusion criteria received a third dose of the BNT162b2 vaccine (30 µg). Antireceptor-binding domain immunoglobulin and T-cell-specific responses to severe acute respiratory syndrome coronavirus 2 spike peptides were assessed 3 months before the third dose (Visit −1) and 0 (Visit 0), 1 (Visit 1), and 2 months (Visit 2) after the third dose. Antinucleocapsid immunoglobulin and neutralizing antibodies were assessed at Visits 0 and 1. Adverse events (AEs) were monitored. Results: Eleven LT and 14 healthy adolescents aged 14.64 (13.2, 15.7) years (44.2% male) had antireceptor-binding domain immunoglobulin geometric mean titers of 1412.47 (95% confidence interval [CI], 948.18–2041.11) and 1235.79 (95% CI, 901.07–1705.73) U/mL at Visit −1 but increased to 38 587.76 (95% CI, 24 628.03–60 460.18) and 29 222.38 (95% CI, 16 291.72–52 401.03) U/mL ( P < 0.05) at Visit 1, respectively. This was consistent with neutralizing antibodies (42.29% and 95.37% vs 44.65% and 91.68%, P < 0.001) and interferon-γ-secreting cells in LT and healthy adolescents at Visit 0 versus Visit 1, respectively. For serious AEs, an LT girl with autoimmune overlap syndrome died 5 months postvaccination from acute liver failure. Conclusions: In both LT and healthy adolescents, humoral and cellular immune responses were high after the 3-dose-BNT162b2 vaccination. However, serious AEs were suspected in LT adolescents with autoimmune diseases.","PeriodicalId":17618,"journal":{"name":"JPGN Reports","volume":"46 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135146452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multicentre Study Into the Use of Polyethylene Glycol With Electrolytes Over at Least 6 Months to Treat Constipation in Paediatric Populations","authors":"Adolfo Bautista-Casasnovas, Federico Argüelles-Martín, Benjamín Martín-Martínez, María Jose Domínguez-Otero, Marta Tavares, Jorge Amil-Dias","doi":"10.1097/pg9.0000000000000353","DOIUrl":"https://doi.org/10.1097/pg9.0000000000000353","url":null,"abstract":"Background: Constipation is a common clinical problem in children, for which the first-line therapeutic options are osmotic laxatives, mainly polyethylene glycol (PEG). These treatments are often prescribed for short or limited periods, with progressive treatment withdrawal often resulting in relapses. However, there are a few studies into the long-term use (≥6 months) of PEG 3350 with electrolytes (PEG+E) in terms of the patients’ clinical evolution. Objectives: To assess bowel movement and other relevant symptoms in children with constipation receiving PEG+E (≥6 months), as well as parent/caregiver satisfaction with this treatment. Methods: A retrospective, observational, descriptive, longitudinal, and multicentre study was carried out on 74 children diagnosed with functional constipation (ROME IV criteria) who had received PEG+E (≥6 months). Bowel control was assessed using the Bristol stool scale, and the parent’s/caregiver’s perception of the treatment was also evaluated employing a nonvalidated questionnaire. Results: Children with an average duration of constipation &gt;1 year experienced a significant improvement in bowel movements and stool consistency when using PEG+E. The mean duration of use was 18.6 (±13.4) months, without the need to adjust the dose for weight. All clinical symptoms improved significantly except bloating, and all the parents/caregivers confirmed these clinical improvements. Conclusions: Children treated with PEG+E (≥6 months) normalised their bowel movements, improving the clinical symptoms related to constipation in the absence of serious advert events or the need for dosage adjustments due to weight gain. Parents/caregivers reported good satisfaction with PEG+E treatment.","PeriodicalId":17618,"journal":{"name":"JPGN Reports","volume":"81 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135480896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}