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[Celiac disease: an update].
Inn Med (Heidelb)
January 2025
Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital, LMU Klinikum München, München, Deutschland.
Celiac disease is one of the most common lifelong autoimmune disorders and is currently understood as a genetically determined immune intolerance to gluten. In genetically predisposed individuals, the consumption of gluten, along with additional environmental factors, triggers an immunological reaction in the small intestinal epithelium, leading to the destruction of the mucosal architecture with villous atrophy. This can be asymptomatic, but may also cause a wide range of symptoms and lead to systemic complications, such as osteoporosis or infertility.
View Article and Find Full Text PDFFactors Influencing Success in Endoscopic Treatment of Grade 4-5 Primary Vesicoureteric Reflux (VUR) in Infancy and Childhood.
J Pediatr Surg
January 2025
Chelsea & Westminster Hospital and Imperial College Hospitals (West London Children's Hospital Alliance), Imperial College London, United Kingdom. Electronic address:
Introduction: There is equipoise among pediatric urologists regarding endoscopic versus surgical intervention for symptomatic Grade 4-5 Vesicoureteric Reflux (VUR), particularly in infancy. Our aim was to assess outcomes of first-line endoscopic treatment in all cases of symptomatic Grade 4-5 VUR and we hypothesised that using endoscopic Dx/HA as first line management for primary VUR would obviate the need for ureteric reimplantation in the majority of cases.
Methods: Retrospective single-surgeon analysis of consecutive patients with primary Grade 4-5 VUR over 15 years.
Chapter 7: CLINICAL FORMS AT DIFFERENT AGES OF LIFE: CHILDHOOD, PREGNANCY, LACTATION, OLD AGE.
Ann Endocrinol (Paris)
January 2025
Université Paris-Saclay, Inserm, Endocrine Physiology and Physiopathology, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Rares de l'Hypophyse HYPO, F-94270 Le Kremlin-Bicêtre, France. Electronic address:
Primary hyperparathyroidism is rare in children. A germline mutation is identified in half of all children with primary hyperparathyroidism (70% of newborns and infants, and 40% of children and adolescents). The clinical manifestations of primary hyperparathyroidism in children are highly variable (often absent in newborns, rather severe and symptomatic in children and adolescents) and depend on the genetic cause, as well as the severity, rapidity of onset and duration of hypercalcemia.
View Article and Find Full Text PDFThe clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.
J Pediatr Endocrinol Metab
January 2025
Division of Pediatric Neurology, Department of Pediatrics and Child Health, Erciyes University, Faculty of Medicine, Kayseri, Türkiye.
Objectives: Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of asymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement.
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