JPGN Reports最新文献_第3页

Sedation‐free transnasal esophagoscopy to evaluate and monitor esophageal diseases in children with esophageal atresia‐tracheoesophageal fistula 无镇静经鼻食管镜检查评估和监测食管闭锁-气管食管瘘患儿的食管疾病

JPGN Reports Pub Date : 2024-03-13 DOI: 10.1002/jpr3.12063

Michael Joseph, Michelle M. Corrado, Eunice Odiase, Joel A. Friedlander, Clint Smith, Nathalie Nguyen

{"title":"Sedation‐free transnasal esophagoscopy to evaluate and monitor esophageal diseases in children with esophageal atresia‐tracheoesophageal fistula","authors":"Michael Joseph, Michelle M. Corrado, Eunice Odiase, Joel A. Friedlander, Clint Smith, Nathalie Nguyen","doi":"10.1002/jpr3.12063","DOIUrl":"https://doi.org/10.1002/jpr3.12063","url":null,"abstract":"Patients with esophageal atresia and tracheoesophageal fistula (EA‐TEF) are at increased risk of conditions including gastroesophageal reflux, peptic esophagitis, gastric metaplasia, anastomotic strictures, eosinophilic esophagitis, and dysphagia. Patients with TEF‐EA may need serial endoscopy in their lifetime given the known short‐ and long‐term GI complications. There has been increased interest in pediatric unsedated transnasal endoscopy (TNE) as an endoscopic alternative as it is lower cost, has shorter recovery time, and eliminates potential risks associated with anesthesia. We report on the use of TNE with EA‐TEF in four patients: One patient had gastroesophageal reflux disease, one patient had eosinophilic esophagitis and TNE was used for surveillance in two patients. Use of TNE allowed for close endoscopic monitoring and changes in medication management. The third and fourth patients underwent TNE as part of routine EA‐TEF screening which is recommended by societal guidelines (Krishnan et al, J Pediatr Gastroenterol Nutr. 2016;63(5):550‐570). Unsedated TNE is an alternative endoscopic approach in the management of patients with EA‐TEF.","PeriodicalId":17618,"journal":{"name":"JPGN Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140246447","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}

引用次数: 0

Shwachman–Diamond syndrome mimicking mitochondrial hepatopathy 模仿线粒体肝病的 Shwachman-Diamond 综合征

JPGN Reports Pub Date : 2024-03-13 DOI: 10.1002/jpr3.12064

Odelya Kaufman, Colleen Donnelly, Emalyn E. Cork, Maria I. Fiel, Jaime Chu, Jaya Ganesh

引用次数: 0

Concurrent cecal lipoma and Crohn's disease in a pediatric patient: A conservative approach 一名儿童患者同时患有盲肠脂肪瘤和克罗恩病：保守疗法

JPGN Reports Pub Date : 2024-03-13 DOI: 10.1002/jpr3.12061

Ryan Shargo, Morgan Ekblad, Jessica V Baran, Jerry M. Brown, Wilfredo Chamizo, Sara Karjoo, Michael J Wilsey

引用次数: 0

Johanson–Blizzard syndrome caused by novel UBR1 mutation in four Saudi patients 四名沙特患者的新型 UBR1 基因突变导致约翰森-布莱兹综合征

JPGN Reports Pub Date : 2024-03-01 DOI: 10.1002/jpr3.12057

Khalid Noli, N. Aleysae, Ismail Alzahrani, Ahmed Al‐Ghamdi, Mohammed Alkazmi, Ahmed Almasoudi

{"title":"Johanson–Blizzard syndrome caused by novel UBR1 mutation in four Saudi patients","authors":"Khalid Noli, N. Aleysae, Ismail Alzahrani, Ahmed Al‐Ghamdi, Mohammed Alkazmi, Ahmed Almasoudi","doi":"10.1002/jpr3.12057","DOIUrl":"https://doi.org/10.1002/jpr3.12057","url":null,"abstract":"Johanson–Blizzard syndrome (JBS) is a rare genetic disorder caused by Ubiquitin Protein Ligase E3 Component N‐Recognin1 (UBR1) gene mutations. It is characterized by exocrine pancreatic insufficiency, craniofacial deformities, sensorineural hearing loss, and a broad variety of intellectual disabilities. The aim of our study is to report four pediatric cases (three of which are siblings, and the fourth patient is unrelated) that presented some features of JBS. The cases have been confirmed by genetic testing to have mutations in the UBR1 gene. This case series study was conducted retrospectively, giving a detailed description of the demographic and clinical information of these four cases, and reflecting our experience with this subset of patients. All these cases have been treated at the King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia, and were identified by their clinical and laboratory markers that favor JBS. A novel homozygous missense mutation c.2075 T > C (p. lle692Thr) in exon 18 (UBR1: NM_174916.3) was identified and confirmed by Sanger sequencing in all our cases outlined in this paper. These presented cases illustrate the phenotypic variability and complexity of JBS and the importance of physical examination to reach a diagnosis. The identified novel mutation in this study broadens the spectrum of UBR1 mutations that contribute to JBS.","PeriodicalId":17618,"journal":{"name":"JPGN Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140090135","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}

引用次数: 0

Duodenal obstruction: A rare complication of severe acute pancreatitis in children 十二指肠梗阻：儿童重症急性胰腺炎的罕见并发症

JPGN Reports Pub Date : 2023-12-28 DOI: 10.1002/jpr3.12034

Olivier Leclercq, Laurie Lecomte, X. Stephenne, I. Scheers

引用次数: 0

Neurometabolism and brain morphometry in an adolescent female with an extra‐hepatic congenital portosystemic shunt 患有肝外先天性门静脉分流术的青少年女性的神经代谢和脑形态测量

JPGN Reports Pub Date : 2023-12-28 DOI: 10.1002/jpr3.12035

Isaline Chabbey, C. Cudalbu, Eugénie Barras, Sylviane Hanquinet, Bénédicte Maréchal, A. Rougemont, Julie Wacker, Florence Zangas‐Gheri, V. McLin

{"title":"Neurometabolism and brain morphometry in an adolescent female with an extra‐hepatic congenital portosystemic shunt","authors":"Isaline Chabbey, C. Cudalbu, Eugénie Barras, Sylviane Hanquinet, Bénédicte Maréchal, A. Rougemont, Julie Wacker, Florence Zangas‐Gheri, V. McLin","doi":"10.1002/jpr3.12035","DOIUrl":"https://doi.org/10.1002/jpr3.12035","url":null,"abstract":"Chronic hepatic encephalopathy (CHE) has been reported both in patients with congenital porto‐systemic shunts (CPSS) and chronic liver disease. CHE is difficult to recognize in children as there is no clear definition and its manifestations are highly variable. CHE is associated with variations in brain volumes and metabolites that have already been demonstrated using 1.5‐3T MRI systems. However, the in‐depth study of brain metabolism requires the high spectral resolution of high magnetic fields.We analyzed the neurometabolic profile, brain volumes and T1 relaxation times of a child with a CPSS using high field proton magnetic resonance spectroscopy (1H MRS, 7T) combined with MRI and compared it to an age‐matched control group. We also evaluated the impact of shunt closure on neurocognitive symptoms using adapted neuropsychological tests.7T MRS revealed a significant increase in glutamine compared to controls, a decrease in brain osmolytes, and a slight elevation in NAA concentrations. 7T MRI scans showed morphological abnormalities but no changes in the signal intensity of the globus pallidus. Neurocognitive testing revealed attention deficit disorder, language difficulties, and mild intellectual disability. Most of these areas improved after shunt closure.In this paediatric case of type B HE with normal fasting ammonia, neurometabolic profile was compatible with what has been previously shown in chronic liver disease, while also demonstrating an isolated glutamine peak. In addition, neurocognitive function partially improved after shunt closure, arguing strongly for shunt closure in both presymptomatic and symptomatic patients.","PeriodicalId":17618,"journal":{"name":"JPGN Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139148425","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}

引用次数: 0

Symptomatic hypercalcemia in an infant secondary to excessive consumption of almond milk as a formula alternative 一名婴儿因过量饮用杏仁露作为配方奶替代品而继发症状性高钙血症

JPGN Reports Pub Date : 2023-12-28 DOI: 10.1002/jpr3.12028

Whitney C. Gulledge, Brittany M. Gerald, Kathryn M. Sumpter, Nathaniel G. Rogers

引用次数: 0

Intractable diarrhea in an infant—autoimmune enteropathy: A case report 婴儿自身免疫性肠病的顽固性腹泻：病例报告

JPGN Reports Pub Date : 2023-12-27 DOI: 10.1002/jpr3.12038

Shivangi Tetarbe, Kasvi Shah, Ira Shah

引用次数: 0

Application of an Interactive, Hands-On Nutritional Curriculum for Pediatric Residents 儿科住院医师互动、动手营养课程的应用

JPGN Reports Pub Date : 2023-11-01 DOI: 10.1097/pg9.0000000000000384

Cory Wyatt Jones, Andrew A.M. Singer

引用次数: 0

Patient, Parent, and Provider Perceptions of Barriers to Pediatric Inflammatory Bowel Disease Care 儿童炎症性肠病护理障碍的患者、家长和提供者认知

JPGN Reports Pub Date : 2023-11-01 DOI: 10.1097/pg9.0000000000000386

Jennifer L. Dotson, Josh Bricker, Deena J. Chisolm, Laura M. Mackner

{"title":"Patient, Parent, and Provider Perceptions of Barriers to Pediatric Inflammatory Bowel Disease Care","authors":"Jennifer L. Dotson, Josh Bricker, Deena J. Chisolm, Laura M. Mackner","doi":"10.1097/pg9.0000000000000386","DOIUrl":"https://doi.org/10.1097/pg9.0000000000000386","url":null,"abstract":"Objectives: Children with inflammatory bowel disease (IBD) have a significant life-long burden as a result of disease, impacted by environmental and individual barriers. Successful health system interventions require a comprehensive approach, informed by various stakeholders. The main objective was to identify health system barriers and potential solutions from existing patients, families, and providers via focus groups. Methods: Participants for the focus groups were existing English-speaking patients (ages 9–18) with IBD, their caregiver(s), and providers including multiple professions (eg, physician, nurse, pediatrician, social worker, care coordinator, scheduler, and psychologist). Separate focus groups were led by experienced personnel for parents, children, and providers, using a standardized interview guide. Sessions were recorded, transcribed, and verified. Using content analysis, we systematically classified data through coding and identified themes. Results: Focus groups comprised (a) 3 patient groups (n = 20, 50% female, including 2 younger; mean age = 11.4 ± 1.5 years) and 1 older group (mean age = 15.6 ± 1.3 years), (b) 3 parent groups (n = 24, 83% female), and (c) 2 multidisciplinary provider groups (n = 19). Families shared several common concerns with providers (eg, school, care delay, psychosocial, and financial) but varied on specifics. Some barriers may be addressable through family or staff education, improved communication (eg, care delay/ access, transition), or training (eg, labs and diet), while others may require change at an institutional or policy level (eg, insurance). Conclusions: This qualitative analysis identified several barriers to IBD care, some shared, some unique to patients, parents, and providers, highlighting the importance of obtaining multiple stakeholder perspectives when exploring barriers to care.","PeriodicalId":17618,"journal":{"name":"JPGN Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135564280","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}

引用次数: 0