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Living with Pediatric Coeliac Disease: Lessons for Health Service Delivery.
Dig Dis Sci
January 2025
Department of Paediatric Gastroenterology, Hepatology and Liver Transplant, Queensland Children's Hospital, Graham St, South Brisbane, 4101, Australia.
Background: Coeliac Disease (CD) affects up to 1.4% of children worldwide, with a rising global incidence. A less typical clinical presentation and the need for a life-long gluten exclusion diet raise challenges for diagnosis, management, and healthcare delivery with considerable impacts for CD patients and families as well as clinical services.
View Article and Find Full Text PDFBroadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene.
Gene
January 2025
Pediatric Department, University Hospital "Mother Teresa", Tirana, Albania. Electronic address:
White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features.
View Article and Find Full Text PDFCeliac Disease in Social Media: Content analysis of YouTube videos.
JMIR Infodemiology
January 2025
Ankara Etlik City Hospital, Ankara, TR.
Background: YouTube is an increasingly used platform for medical information. However, the reliability and validity of health-related information on celiac disease (CD) on YouTube has not been determined.
Objective: The aim of this study was to analyse the reliability and validity of CD-related YouTube videos.
Anterior uveitis, pigmentary retinopathy, and pars plana exudates in Celiac disease.
Retin Cases Brief Rep
December 2024
Department of Histopathology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Purpose: To report a case of bilateral anterior uveitis, pigmentary retinopathy, and pars plana exudates in a patient with Celiac disease with complete resolution of inflammation following gluten-free diet.
Methods: Retrospective case report.
Results: A 19-year-old Asian Indian girl presented with bilateral non-granulomatous anterior uveitis for the past 2 months.
Effect of BMI and symptoms at celiac disease diagnosis on serology normalization after 2 years of a gluten-free diet in children.
J Pediatr Gastroenterol Nutr
January 2025
Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Stony Brook Children's Hospital, Stony Brook, USA.
Objectives: To determine if after 2 years of consuming a gluten-free diet post celiac disease diagnosis, pediatric patients who were overweight or obese at diagnosis are less likely to normalize celiac disease serologies as compared with those who were normal weight or underweight at diagnosis. Secondary aims include characterizing how initial symptoms at presentation predict body mass index (BMI) change and serology improvement over the first 2 years of being on a gluten-free diet following diagnosis of celiac disease.
Methods: A retrospective chart review was performed that included all biopsy-proven celiac disease patients followed at Stony Brook Children's Hospital's Celiac Disease Center diagnosed between the years 2007-2022.
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