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http://dx.doi.org/10.1164/rccm.201604-0766IM | DOI Listing |
J Pediatr Surg
December 2024
Great Ormond Street Hospital for Children, Great Ormond Street, London, WC1N 3JH, UK.
Prenat Diagn
January 2025
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Objective: To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome.
Methods: A 32-year-old G4P2011 patient was referred at 18w5d gestation for suspected fetal encephalocele. Serial imaging, including ultrasound and MRI, was performed to evaluate fetal anomalies.
J Community Genet
December 2024
EURORDIS - Rare Diseases Europe, Paris, France.
The European Reference Networks (ERNs) for rare and complex diseases offer significant potential for building, maintaining and evaluating patient partnership, for which the recently developed ERN Patient Partnership Framework may serve as guidance. This scoping review aims to identify and describe relevant frameworks published in scientific literature, capturing key learning points to inform future updates of the ERN Patient Partnership Framework and promote its use in practice. MEDLINE, Embase, and the Web of Science Core Collection were searched to identify recently published frameworks (2013-2023) focused on patient partnership and aligned with at least one core ERN activity.
View Article and Find Full Text PDFJ Indian Assoc Pediatr Surg
November 2024
Department of Pediatric Surgery, IMS-BHU, Varanasi, Uttar Pradesh, India.
Background: Elective ventilation and paralysis have been shown to decrease the anastomosis-related complications following primary repair of esophageal atresia (EA). Repeated endotracheal tube (ETT) block and replacement can increase these complications. We evaluated the results of our strategy of electively changing the ETT just before shifting the patient to the postoperative ward for elective ventilation.
View Article and Find Full Text PDFJ Infect Chemother
December 2024
Japanese Society for Inherited Metabolic Diseases.
Background: In March 2024, children with pulmonary hypoplasia, airway stenosis, congenital esophageal atresia, inborn errors of metabolism, and neuromuscular diseases became eligible for palivizumab in Japan. Despite limited epidemiological data, expert consensus guided the recommendation for palivizumab use in these children to ensure its proper application.
Objectives: This article outlines the proper use of palivizumab for RSV infection in infants and children with the specified conditions, aiming to enhance understanding of the medical basis for its clinical guidance.
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