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Preservation of the azygos vein versus ligation of the azygos vein during primary surgical repair of congenital esophageal atresia.
Cochrane Database Syst Rev
January 2025
Neonatal Intensive Care Unit, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Background: Esophageal atresia is one of the most common life-threatening congenital malformations and is defined as an interruption in the continuity of the esophagus with or without fistula to the trachea or bronchi. Definitive treatment is surgical ligation of the fistula if present and esophageal end-to-end anastomosis of the two pouches, thereby reconstructing the continuity of the esophagus. During this procedure, the surgeon may choose to either ligate or preserve the azygos vein, a major draining vein for the esophagus and surrounding structures, but no definitive consensus on the matter exists.
View Article and Find Full Text PDFA Case of a Newborn Presenting With a VACTERL-Like Association.
Cureus
December 2024
Family Medicine, Louisiana State University Health Sciences Center, Alexandria, USA.
The VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association represents an enigmatic syndrome requiring further study. This report describes a full-term neonate born to a multiparous woman who was found, upon further examination, to have multiple congenital abnormalities, including a bicuspid aortic valve, patent foramen ovale, tracheoesophageal fistula (TEF), asymmetric crying facies, microphallus, and a single inguinal testis. The discussion explores environmental and genetic factors that may contribute to this association, as well as similar conditions, such as CHARGE (coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities) syndrome.
View Article and Find Full Text PDFLetter to the Editor in Response to: Association of Operative Approach With Postoperative Outcomes in Neonates Undergoing Surgical Repair of Esophageal Atresia and Tracheoesophageal Fistula.
J Pediatr Surg
December 2024
Great Ormond Street Hospital for Children, Great Ormond Street, London, WC1N 3JH, UK.
Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene.
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.
Supporting the continuous development and use of a patient partnership framework in European rare disease networks (ERNs): a scoping review of frameworks in the scientific literature.
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.
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