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The dilemma of X-linked agammaglobulinemia carriers.
J Allergy Clin Immunol Glob
February 2025
Department of Molecular Medicine, Sapienza University, Rome, Italy.
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.
Development of right ventricular electromechanical dyssynchrony following surgical repair of tetralogy of Fallot in infants.
Front Pediatr
January 2025
Division of Pediatric Cardiology, Division of Pediatrics, Children's Mercy Hospital, University of Missouri-Kansas City, Kansas City, MO, United States.
Background: In adolescents and adults with tetralogy of Fallot (TOF), right ventricle (RV) electromechanical dyssynchrony (EMD) due to right bundle branch block (RBBB) is associated with reduced exercise capacity and RV dysfunction. While the development of RBBB following surgical repair of tetralogy of Fallot (rTOF) is a frequent sequela, it is not known whether EMD is present in every patient immediately following rTOF. The specific timing of the onset of RBBB following rTOF therefore provides an opportunity to assess whether acute RBBB is associated with the simultaneous acquisition of EMD.
View Article and Find Full Text PDFTransposition of great arteries (TGA) is a critical congenital heart disease leading to a fatal outcome if timely management is not provided. Management in low-income countries is challenging. A retrospective analysis was carried out at Sudan Heart Center for infants with TGA who underwent balloon atrial septostomy (BAS) from January 2010 to December 2020.
View Article and Find Full Text PDFDelayed Diagnosis of a Bilateral Congenital Diaphragmatic Hernia in an Infant: A Rare Case Presentation.
Cureus
January 2025
Pediatric Surgery, Bahrain Defence Force Royal Medical Services, Riffa, BHR.
We report the case of a four-month-old male infant diagnosed incidentally with bilateral congenital diaphragmatic hernias. Our patient was found to have chest asymmetry during an unrelated hospital visit and bilateral diaphragmatic defects were confirmed on cross-sectional imaging. Surgical repair of a right-sided Bochdalek hernia and a left-sided Morgagni hernia was performed with excellent outcomes.
View Article and Find Full Text PDFPresentation and outcome of Alagille syndrome in paediatric patients at State Academic Hospital in South Africa.
Sudan J Paediatr
January 2024
Department of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder in which patients may have characteristic facial features and involvement of the liver, heart, vessels, bones, eyes, kidneys and central nervous system. As there is little published data on ALGS in Africa, our aim was to describe the presentation and outcomes of ALGS in South Africa. The study constitutes a retrospective analysis of 25 patient medical records diagnosed as ALGS at Chris Hani Baragwanath Academic Hospital Pediatric Gastroenterology clinic between January 1992 and January 2020.
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